In addition, each feature of this syndrome may vary from subtle to severe. [2] A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. ... Another sign of Stickler syndrome is mild to severe hearing loss that, for some people, may be progressive (see hearing loss with craniofacial syndromes ). ... Defective collagen molecules or reduced amounts of collagen affect the development of bones and other connective tissues, leading to the characteristic features of Stickler syndrome. [3] [6] [2] [5] [7] Other, as yet unknown, genes may also cause Stickler syndrome because not all individuals with the condition have mutations in one of the three identified genes. [8] Diagnosis [ edit ] Types [ edit ] Genetic changes are related to the following types of Stickler syndrome: [3] [6] Stickler syndrome, COL2A1 (75% of Stickler cases) Stickler syndrome, COL11A1 Stickler syndrome, COL11A2(non-ocular) Stickler syndrome, COL9A1 (recessive variant) Stickler syndrome, COL9A2 (recessive variant) Stickler syndrome, COL9A3 (recessive variant) Stickler Syndrome, LOX3 (Recessive, 7 cases reported) Whether there are two or three types of Stickler syndrome is controversial. ... Marshall syndrome Pierre Robin syndrome References [ edit ] ^ a b Stickler G. ... External links [ edit ] Classification D ICD - 10 : Q87.8 ICD - 9-CM : 759.89 OMIM : 108300 277610 184840 MeSH : C537492 DiseasesDB : 29327 GeneReviews/NCBI/NIH/UW entry on Stickler Syndrome v t e Diseases of collagen , laminin and other scleroproteins Collagen disease COL1 : Osteogenesis imperfecta Ehlers–Danlos syndrome, types 1, 2, 7 COL2 : Hypochondrogenesis Achondrogenesis type 2 Stickler syndrome Marshall syndrome Spondyloepiphyseal dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia (see also C2/11 ) COL3 : Ehlers–Danlos syndrome, types 3 & 4 Sack–Barabas syndrome COL4 : Alport syndrome COL5 : Ehlers–Danlos syndrome, types 1 & 2 COL6 : Bethlem myopathy Ullrich congenital muscular dystrophy COL7 : Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn COL8: Fuchs' dystrophy 1 COL9: Multiple epiphyseal dysplasia 2, 3, 6 COL10: Schmid metaphyseal chondrodysplasia COL11: Weissenbacher–Zweymüller syndrome Otospondylomegaepiphyseal dysplasia (see also C2/11 ) COL17: Bullous pemphigoid COL18: Knobloch syndrome Laminin Junctional epidermolysis bullosa Laryngoonychocutaneous syndrome Other Congenital stromal corneal dystrophy Raine syndrome Urbach–Wiethe disease TECTA DFNA8/12, DFNB21 see also fibrous proteins
Overall sensorineural hearing loss in type I Stickler syndrome is typically mild and not significantly progressive; it is less severe than that reported for types II and III Stickler syndrome. ... Biallelic pathogenic variants in COL9A2 have been shown to cause autosomal recessive Stickler syndrome (Stickler syndrome, type V). In the family of Asian Indian origin described by Baker et al [2011] two children had Stickler syndrome manifest as mild-to-moderate hearing loss, high myopia, and vitreoretinopathy. ... Prevalence No studies to determine the prevalence of Stickler syndrome have been undertaken. However, an approximate incidence of Stickler syndrome among newborns can be estimated from data regarding the incidence of Robin sequence in newborns (1:10,000-1:14,000) and the percent of these newborns who subsequently develop signs or symptoms of Stickler syndrome (35%). ... While some families with vertical transmission have been reported [Roy-Doray et al 1997], Binder syndrome is not considered a genetic syndrome, but rather a nonspecific abnormality of the nasomaxillary complex. ... Approximately half of all individuals with Robin sequence have an underlying syndrome, of which Stickler syndrome is the most common.
A number sign (#) is used with this entry because of evidence that Stickler syndrome type IV (STL4) is caused by homozygous mutation in the COL9A1 gene (120210) on chromosome 6q13. For a general phenotypic description and a discussion of genetic heterogeneity of Stickler syndrome, see 108300. Clinical Features Van Camp et al. (2006) described a consanguineous Moroccan family in which 4 of 10 sibs had features characteristic of Stickler syndrome, including moderate to severe sensorineural hearing loss, moderate to high myopia with vitreoretinopathy, and epiphyseal dysplasia. ... They also had exudative rhegmatogenous retinal detachment. Inheritance Stickler syndrome IV has an autosomal recessive inheritance pattern (Van Camp et al., 2006). Molecular Genetics In 4 sibs with Stickler syndrome, offspring of healthy, consanguineous Moroccan parents, Van Camp et al. (2006) identified a homozygous nonsense mutation (R295X; 120210.0002) in the COL9A1 gene. ... In affected members of 2 consanguineous families segregating autosomal recessive Stickler syndrome, Nikopoulos et al. (2011) identified homozygous mutations in the COL9A1 gene.
Overview Stickler syndrome is a genetic disorder that can cause serious vision, hearing and joint problems. ... While there is no cure for Stickler syndrome, treatments can help control symptoms and prevent complications. ... Complications Potential complications of Stickler syndrome include: Difficulty breathing or feeding. ... Hearing loss associated with Sticker syndrome may worsen with time. Heart problems. Some people with Stickler syndrome may be at higher risk of heart valve problems.
A number sign (#) is used with this entry because of evidence that Stickler syndrome type V (STL5) is caused by homozygous mutation in the COL9A2 gene (120260) on chromosome 1p34. ... For a general phenotypic description and a discussion of genetic heterogeneity of Stickler syndrome, see 108300. Clinical Features Baker et al. (2011) studied a large 5-generation consanguineous pedigree of Asian Indian origin segregating autosomal recessive Stickler syndrome. ... Molecular Genetics In a large 5-generation consanguineous pedigree of Asian Indian origin segregating autosomal recessive Stickler syndrome, Baker et al. (2011) analyzed 3 candidate collagen IX-related genes and identified homozygosity for an 8-bp deletion in the COL9A2 gene (120260.0006) in an affected sister and brother.
Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence (see this term), bone disorders, and sensorineural deafness (10% of cases). ... Juvenile joint laxity is followed by early signs of arthrosis. Etiology Stickler syndrome type 1 is caused by mutations in the COL2A1 gene (12q13.11-q13.2), Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21) and Stickler syndrome type 3 (without ocular signs; see this term) is caused by mutations in the COL11A2 gene (6p21.3). An autosomal recessive form of Stickler syndrome associated with mutations in the COL9A1 (6q12-q14) gene has also been reported in a Moroccan family. ... Antenatal diagnosis Prenatal diagnosis is feasible for families in which the disease-causing mutation has been identified. Genetic counseling The syndrome generally appears to be transmitted in an autosomal dominant manner and is genetically heterogeneous.
Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. ... Stickler syndrome is caused by genetic changes (mutations or pathogenic variants) in one of six genes: COL2A1 , COL11A1 , COL11A2 , COL9A1 , COL9A2 , or COL9A3 . The syndrome can be inherited in an autosomal dominant or autosomal recessive manner. Stickler syndrome can be diagnosed when a doctor observes many symptoms consistent with the syndrome. Genetic testing can be used to confirm the diagnosis. Treatment for Stickler syndrome may include surgeries, medications to reduce joint pain, and hearing aids .
Wallenberg syndrome is a condition that affects the nervous system. ... Some people have uncontrollable hiccups, loss of pain and temperature sensation on one side of the face, and/or weakness or numbness on one side of the body. Wallenberg syndrome is often caused by a stroke in the brain stem .
The signs and symptoms of Muenke syndrome vary among affected people, and some findings overlap with those seen in other craniosynostosis syndromes. ... Other Implications of Muenke Syndrome [ edit ] Apart from craniosynostosis, it has been suggested that hearing loss, and learning difficulties are common in Muenke syndrome. ... There is no connection between anything mother did (or did not do) to activate the syndrome. If neither of the parents have Muenke syndrome, chances of having another child with the syndrome are minimal. ... This means if a parent has Muenke syndrome, every newborn has a 50% chance of inheriting the syndrome. [ citation needed ] Genetics [ edit ] Muenke Syndrome is inherited in an autosomal dominant pattern. Muenke syndrome is inherited in an autosomal dominant pattern.
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. Epidemiology Birth prevalence is estimated at approximately 1/30,000, accounting for about 8% of all craniosynostoses and over 25% of cases with an identified genetic cause. Clinical description Muenke syndrome (MS) patients show a wide range of clinical findings, even within a single family. ... Differential diagnosis Differential diagnoses include other types of syndromic craniosynostosis such as Crouzon and Saethre-Chotzen syndromes and Pfeiffer syndrome type 1.
In a study of intellectual outcomes following protocol management in four persons with Muenke syndrome followed from birth to skeletal maturity compared to persons with Crouzon syndrome and Pfeiffer syndrome, Flapper et al [2009] found that individuals with Muenke syndrome and Pfeiffer syndrome were more likely to be intellectually impaired than were individuals with Crouzon syndrome. ... After evaluating 13 children with Muenke syndrome, a study by Maliepaard et al [2014] found that children with Muenke syndrome had more social, attention, and inattention problems compared to a normative population and children with other craniosynostosis syndromes. ... OR To describe bilateral coronal suture synostosis that is not identifiable as a classic syndrome (e.g., Pfeiffer syndrome, Crouzon syndrome). ... Differential Diagnosis Unclassified brachycephaly refers to bilateral coronal synostosis in individuals who do not have any of the classic craniosynostosis syndromes (e.g., Pfeiffer syndrome, Crouzon syndrome). ... Table 3 compares and contrasts Muenke syndrome with similar craniosynostosis syndromes.
Clinical Features On the basis of 61 individuals from 20 unrelated families where coronal synostosis was caused by the P250R mutation in the FGFR3 gene, Muenke et al. (1997) defined a new clinical syndrome distinct from previously defined craniosynostosis syndromes, including the Pfeiffer (101600), Crouzon (123500), Jackson-Weiss (123150), and Apert (101200) syndromes. ... Brachydactyly was seen in some cases; none had clinically significant syndactyly or deviation of the great toe to suggest Apert syndrome or Pfeiffer syndrome, respectively. ... While the radiologic findings of hands and feet can be helpful in the recognition of this syndrome, it was not in all cases clearly distinguishable on a clinical basis from other craniosynostosis syndromes. ... The finding was confirmed in a mouse model of Muenke syndrome. Escobar et al. (2009) reported a pair of identical female twins with variable manifestations of Muenke syndrome despite having the same de novo P250R mutation. ... Inheritance Muenke syndrome is an autosomal dominant disorder (Muenke et al., 1997).
Muenke syndrome is a condition characterized by the premature closure of the coronal suture of the skull (coronal craniosynostosis) during development. ... Other variable features include abnormalities of the hands or feet, hearing loss and developmental delay. Muenke syndrome is caused by mutations in the FGFR3 gene.
Muenke syndrome is a condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. ... The signs and symptoms of Muenke syndrome vary among affected people, and some features overlap with those seen in other craniosynostosis syndromes. A small percentage of people with the gene mutation associated with Muenke syndrome do not have any of the characteristic features of the disorder. Frequency Muenke syndrome occurs in about 1 in 30,000 newborns. ... The mutation associated with Muenke syndrome causes the FGFR3 protein to be overly active, which interferes with normal bone growth and allows the bones of the skull to fuse before they should.
A number sign (#) is used with this entry because neonatal Bartter syndrome type 4B with sensorineural deafness (BARTS4B) is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes. Description Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. ... Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, 601678) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). ... Nozu et al. (2008) reported a 2-year-old Japanese girl with a severe form of Bartter syndrome and sensorineural deafness who was born of nonconsanguineous parents.
For a discussion of genetic heterogeneity of Bartter syndrome, see 607364. Clinical Features Seyberth et al. (1985) described an infantile variant of Bartter syndrome. that was usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis, and a typical appearance. Some of the infants with the infantile variant of Bartter syndrome had been described as having a prominent forehead, triangular facies with drooping mouth, and large eyes and pinnae. ... Neither parent manifested any clinical symptoms of Bartter syndrome, and audiograms revealed moderate hearing loss consistent with their age. Miyamura et al. (2003) stated that this was the first case report of Bartter syndrome from Japan. Mapping Using a DNA-pooling strategy, Brennan et al. (1998) performed a genomewide linkage screen in the kindred reported by Landau et al. (1995) and demonstrated linkage of Bartter syndrome with sensorineural deafness to 1p31. ... The findings in this family demonstrate further genetic heterogeneity of Bartter syndrome. In addition, the cosegregation of deafness in Bartter syndrome in individuals in 5 separate sibships, some of whom are moderately distantly related, with the same haplotype of markers surrounding the locus appear to prove that this syndrome is due to the pleiotropic effects of a single gene.
Clinical description Five distinct genotypes have been described, with four distinct clinical variants: an antenatal/infantile Bartter syndrome (most patients with genotypes I and II; see this term), characterized by polyhydramnios, premature delivery, polyuria, dehydration, hypercalciuria and nephrocalcinosis; an infantile Bartter syndrome with deafness (genotype IV, see this term), with congenital sensorineural deafness; classic Bartter syndrome (mostly patients with genotype III, but also some patients with genotype I and II; see this term), manifesting as polyuria-polydipsia in infancy-childhood through adulthood, dehydration and a variable delay in the height-weight growth curve; and autosomal dominant hypocalcemia with Bartter syndrome (patients with genotype V, see this term), associating chronic hypocalcemia and tubular salt wasting, hypokalemia and alkalosis. Etiology Bartter syndrome results from a defect in sodium, potassium and chloride reabsorption at the level of Henle's loop. ... Hypocalcemia is observed in Bartter syndrome type V. Genetic testing provides the definite diagnosis. Differential diagnosis The differential diagnosis includes pseudo-Bartter syndrome (diuretic abuse, surreptitious vomiting), Gitelman syndrome, cystic fibrosis and celiac disease (see these terms). ... Genetic counseling Four of the genetic variants (types I,II,III,IV) of Bartter syndrome are transmitted following an autosomal recessive pattern whereas variant (type V) is transmitted as an autosomal dominant trait.
Based on these clinical features, the antenatal form of Bartter syndrome has been referred to as the hyperprostaglandin E syndrome (Seyberth et al., 1987). ... There may be a form of hyperprostaglandin E syndrome that is separate from the antenatal Bartter syndrome due to mutation of the SLC12A1 or KCNJ1 gene. ... In contrast, however, patients with hyperprostaglandin E syndrome had a marked resistance to this loop diuretic. ... The disorder has since been designated antenatal Bartter syndrome type 2. Thus, antenatal Bartter syndrome is genetically heterogeneous. The International Collaborative Study Group for Bartter-like Syndromes (1997) reported mutations in the KCNJ1 gene (600359.0007-600359.0009) in 3 kindreds and 5 sporadic cases with antenatal Bartter syndrome type 2.
For a discussion of genetic heterogeneity of Bartter syndrome, see 607364. Clinical Features The antenatal form of Bartter syndrome is a life-threatening disorder in which both renal tubular hypokalemic alkalosis and profound systemic symptoms are manifest (Seyberth et al., 1985; Deschenes et al., 1993; and Proesmans et al., 1985). ... Based on these clinical features, the antenatal form of Bartter syndrome has been referred to as the hyperprostaglandin E syndrome (Seyberth et al., 1987). Clinical Variability Kurtz et al. (1997) studied a cohort of 20 Costa Rican patients, previously described by Madrigal et al. (1997), who had a congenital syndrome that bore strong similarities to antenatal Bartter syndrome type 1 but also had several distinct features. ... Kurtz et al. (1997) noted that the Costa Rican patients had a milder clinical course than other antenatal Bartter syndrome patients with NKCC2 (SLC12A1) mutations. ... Mapping In 5 consanguineous kindreds with antenatal Bartter syndrome, Simon et al. (1996) excluded linkage to the region of chromosome 16 where the NCCT gene (SLC12A3; 600968) involved in Gitelman syndrome (263800) is located.
Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. ... Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome. This disease summary is from MedlinePlus Genetics , an online health information resource from the National Institutes of Health.
A number sign (#) is used with this entry because of evidence that transient antenatal Bartter syndrome-5 (BARTS5) is caused by mutation in the MAGED2 gene (300470) on chromosome Xp11. For a discussion of phenotypic and genetic heterogeneity of Bartter syndrome, see 607364. Description Antenatal Bartter syndrome is a potentially life-threatening disease characterized by fetal polyuria, polyhydramnios, prematurity, and postnatal polyuria with persistent renal salt wasting. In transient antenatal Bartter syndrome-5, the onset of polyhydramnios and labor occur several weeks earlier than in other forms of Bartter syndrome. ... Engels et al. (1991) suggested that this represented a familial transient congenital tubulopathy, noting that polyhydramnios, hypercalciuria, and increased excretion of prostaglandin E2 were consistent with a variant of 'hyperprostaglandin-E2 syndrome' (Bartter syndrome). Reinalter et al. (1998) reported a 6-year-old Flemish boy who was born after a pregnancy complicated by severe polyhydramnios at a gestational age of 28 weeks. ... Exclusion Studies In a Flemish boy with transient antenatal Bartter syndrome, Reinalter et al. (1998) stated that no defect in the NKCC2 (SLC12A1; 600839) or ROMK (KCNJ1; 600359) genes had been detected.
Nevo syndrome Other names Cerebral gigantism, Nevo type Nevo syndrome is inherited in an autosomal recessive manner Nevo Syndrome is a rare autosomal recessive disorder that usually begins during the later stages of pregnancy . [1] Nevo Syndrome is caused by a NSD1 deletion, which encodes for methyltransferase involved with chromatin regulation. ... Studies have shown showing similarities between Nevo Syndrome with Ehlers-Danlos syndrome as well as Sotos syndrome . [2] There is an astounding overlap of phenotypic manifestations between Nevo Syndrome and the more frequent Sotos syndrome, which are both caused by the NSD1 deletion. ... (March 2005). “Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome”. National Institutes of Health. 133A (2): 158-164. ^ a b c Kanemoto N, Kanemoto K, Nishimura G, et al. (December 2005). “Nevo syndrome with an NSD1 deletion: A variant of Sotos syndrome?” ... Overgrowth Syndromes. New York: Oxford University Press; 2002. ^ Newton, J. (2015).
Pearson syndrome Other names Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction, Pearson's marrow/pancreas syndrome Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. ... A common mtDNA deletion associated with Pearson syndrome is the deletion of 4977 bp. This deletion has been labeled as m.8470_13446del4977. [6] Diagnosing Pearson syndrome utilizes leukocyte DNA with the Southern Blot analysis. ... Specifically, Pearson syndrome is a combination of syndromes that involves the bone marrow and the exocrine pancreas. [7] Pearson marrow-pancreas syndrome [ edit ] Pearson marrow pancreas syndrome (PMPS) is a condition that presents itself with severe reticulocyto-penic anemia. [3] With the pancreas not functioning properly, this leads to high levels of fats in the liver. ... Seattle: University of Washington. ^ a b c "Pearson marrow-pancreas syndrome" . Genetics Home Reference . May 2013. ^ Pearson Syndrome. http://marrowfailure.cancer.gov/PEARSON.html ^ Kliegman, Stanton (2011). ... cond=Pearson+Syndrome&draw=2&rank=3 External links [ edit ] Pearson Syndrome research study of Inherited Bone Marrow Failure Syndromes (IBMFS) GeneReviews: Pearson syndrome Classification D ICD - 10 : D64.0 OMIM : 557000 DiseasesDB : 32159 External resources eMedicine : ped/1750 GeneReviews : Mitochondrial DNA Deletion Syndromes Orphanet : 699 v t e Mitochondrial diseases Carbohydrate metabolism PCD PDHA Primarily nervous system Leigh disease LHON NARP Myopathies KSS Mitochondrial encephalomyopathy MELAS MERRF PEO No primary system DAD MNGIE Pearson syndrome Chromosomal OPA1 Kjer's optic neuropathy SARS2 HUPRA syndrome TIMM8A Mohr–Tranebjærg syndrome see also mitochondrial proteins
VLCAD deficiency is a condition in which the body is unable to properly breakdown certain fats (called very long-chain fatty acids) into energy, particularly during periods without food (fasting). Signs and symptoms can occur during infancy, childhood or adulthood depending on the form of the condition and may include low blood sugar (hypoglycemia), lack of energy, and muscle weakness. Children affected by the most severe forms of the condition are also at risk of serious complications such as liver abnormalities and life-threatening heart problems. VLCAD deficiency is caused by changes (mutations) in the ACADVL gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Pearson marrow-pancreas syndrome is a severe disorder that usually begins in infancy. ... For this reason, Pearson marrow-pancreas syndrome is considered a bone marrow failure disorder. ... In people with Pearson marrow-pancreas syndrome, the pancreas does not work as well as usual. ... Frequency Pearson marrow-pancreas syndrome is a rare condition; its prevalence is unknown. ... Learn more about the chromosome associated with Pearson marrow-pancreas syndrome mitochondrial dna Inheritance Pattern Pearson marrow-pancreas syndrome is generally not inherited but arises from new (de novo) mutations that likely occur in early embryonic development.
Pearson syndrome affects many parts of the body but especially the bone marrow and the pancreas . ... Some children with Person syndrome may also have problems with their liver, kidneys, heart, eyes, ears, and/or brain. Pearson syndrome is caused by a change (mutation) in the mitochondrial DNA. ... Diagnosis of Pearson syndrome is possible through a bone marrow biopsy , a urine test , or a special stool test . ... Sadly, many children with Pearson syndrome die during infancy. Some children may survive into later childhood, but may go on to develop Kearns-Sayre syndrome .
Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction. ... The presence of vacuolization in granulous and erythroblastic progenitors, visible on the myelogram, is highly suggestive of the syndrome. Perls coloration reveals the presence of ringed sideroblasts. ... Etiology Physiopathologically, this syndrome is a mitochondrial cytopathy. It is caused by mitochondrial DNA deletions, which constitute a diagnostic criterion. ... Genetic counseling Although maternal transmission has been described, Pearson syndrome is typically sporadic. Management and treatment There is no specific treatment of Pearson syndrome. ... Some patients develop typical Kearns-Sayre syndrome (KSS) with ophthalmoplegia, ataxia, pigmentary retinitis, conduction defects and myopathy.
A number sign (#) is used with this entry because Pearson marrow-pancreas syndrome is a contiguous gene deletion/duplication syndrome involving several mtDNA genes. ... In the Pearson syndrome the bone marrow has normal cellularity, and vacuolization is distinctive. The pancreas shows fatty replacement in the Shwachman syndrome, fibrosis in the Pearson syndrome. ... In a patient who had features of Pearson syndrome and who later developed features of Kearns-Sayre syndrome (530000), McShane et al. (1991) showed mtDNA heteroplasmy for a deletion of 4.9 kb. ... Shanske et al. (2002) noted that single deletions of mtDNA are associated with 3 major clinical conditions: Kearns-Sayre syndrome (530000), Pearson syndrome, and progressive external ophthalmoplegia (157640).
A number sign (#) is used with this entry because of evidence that EEM syndrome (EEMS) is caused by homozygous mutation in the CDH3 gene (114021) on chromosome 16q22. ... The presence of macular dystrophy distinguishes it from other syndromes of ectodermal dysplasia and limb malformations.
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels).
A number sign (#) is used with this entry because of evidence that RAPADILINO syndrome is caused by homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 (603780) on chromosome 8q24. Clinical Features In a brother and sister and in 3 sporadic patients, Kaariainen et al. (1989) described a syndrome with radial and patellar aplasia or hypoplasia as main features. ... Among 62 patients with radial aplasia/hypoplasia in Finland, Kaariainen (1993) found a total of 11 cases of RAPADILINO syndrome. Stiff interphalangeal joints were present in at least 5 of the 11, mottled or stippled pigmentation in at least 4, and hearing defect in at least 2. ... Molecular Genetics Siitonen et al. (2003) noted clinical similarities between RAPADILINO syndrome and Rothmund-Thomson syndrome (268400), which can be caused by mutation in the RECQL4 gene. In a screening for mutations in the RECQL4 gene in 10 Finnish families with RAPADILINO syndrome, they identified 4 different mutations, a splice site mutation in intron 7 (603780.0009) and 3 nonsense mutations.
RAPADILINO syndrome is a rare condition that involves many parts of the body. ... The varied signs and symptoms of RAPADILINO syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and Rothmund-Thomson syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. ... Based on these similarities, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms. Frequency RAPADILINO syndrome is a rare condition, although its worldwide prevalence is unknown.
Differential diagnosis Differential diagnoses include Rothmund-Thomson syndrome (RTS) and Baller-Gerold syndrome (see these terms), which show considerable overlap with RAPADILINO syndrome. Mutations of the RECQL4 gene have also been described for these syndromes.The presence of poikiloderma, a major symptom of RTS, distinguishes this syndrome from RAPADILINO. Radial hypoplasia or aplasia, which is constant in RAPADILINO syndrome, is occasional in RTS. Equally, the presence of craniosynostosis in Baller-Gerold syndrome differentiates it from RAPADILINO syndrome. The three syndromes predispose the risk of developing malign pathologies, although this is significantly greater for RTS (mainly osteosarcoma and cutaneous cancers). The clinical differences can be explained by phenotype-genotype correlation, in particular by preservation of helicases in RAPADLINO syndrome. Genetic counseling RAPADILINO syndrome is transmitted in an autosomal recessive manner.
The skin abnormalities are present at birth and persist throughout life. CHILD syndrome also disrupts the formation of the arms and legs during early development. ... Frequency CHILD syndrome is a rare disorder; it has been reported in about 60 people worldwide. ... Causes Mutations in the NSDHL gene cause CHILD syndrome. This gene provides instructions for making an enzyme that is involved in the production of cholesterol. ... The mutations that underlie CHILD syndrome eliminate the activity of the NSDHL enzyme, which disrupts the normal production of cholesterol within cells. ... Only one male with CHILD syndrome has been reported.
CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. ... Differential diagnosis Differential diagnoses include X-linked dominant chondrodysplasia punctata, linear nevus sebaceous syndrome and inflammatory linear verrucous epidermal nevus (see these terms).
A number sign (#) is used with this entry because CHILD syndrome has been found to be caused by mutation in the gene encoding NSDHL (300275). ... The mutations are lethal in hemizygous males (Happle et al., 1980). CK syndrome (300275), an X-linked recessive mental retardation syndrome, is an allelic disorder with a less severe phenotype. ... Happle et al. (1980) used the acronymic designation 'CHILD syndrome': congenital hemidysplasia with ichthyosiform erythroderma and limb defects. ... Hummel et al. (2003) reported a novel mutation in the NSDHL gene (E151X; 300275.0006) in a female infant with left-sided CHILD syndrome, demonstrating that both right- and left-sided CHILD syndrome can be caused by mutations in the same gene. Biochemical Features Because of the clinical similarities between X-linked dominant Conradi-Hunermann syndrome (CDPX2; 302960) and CHILD syndrome, Grange et al. (2000) analyzed plasma sterols in a patient with typical CHILD syndrome.
CHILD syndrome , also known as c ongenital h emidysplasia with i chthyosiform erythroderma and l imb d efects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. ... The condition is caused by mutations in the NSDHL gene, a gene that provides instructions for the production of an enzyme involved in the making of cholesterol. CHILD syndrome is inherited in an X-linked dominant fashion and is almost exclusively found in females. CHILD syndrome is diagnosed based on the symptoms and through genetic testing. There is no specific treatment for CHILD syndrome, but topical creams that include a cholesterol inhibitor have been reported to improve the skin symptoms in a few patients. CHILD syndrome is very rare and less than 30 cases have been reported in the literature.
Find sources: "VACTERL association" – news · newspapers · books · scholar · JSTOR ( February 2013 ) ( Learn how and when to remove this template message ) VACTERL association Other names VATER association, VATER Syndrome, VACTERL syndrome Newborn with radial aplasia of the right arm, is displaying a limb anomaly included in VACTERL Association Specialty Medical genetics The VACTERL association (also VATER association , and less accurately VACTERL syndrome ) refers to a recognized group of birth defects which tend to co-occur (see below ). ... Also, VACTERL association can be linked to other similar conditions such as Klippel Feil and Goldenhar Syndrome including crossovers of conditions. ... Babies with VACTERL association, however, do tend to have normal development and normal intelligence. [ citation needed ] Pathology [ edit ] Patients with abnormal cardiac and kidney function may be more at risk for hemolytic uremic syndrome Diagnosis [ edit ] Differential diagnosis [ edit ] Baller-Gerold syndrome [5] CHARGE syndrome [5] Currarino syndrome [5] DiGeorge Syndrome [5] Fanconi anemia [5] Feingold syndrome [5] Fryns syndrome [5] MURCS association [5] Oculo-auriculo-vertebral syndrome [5] Opitz G/BBB syndrome [5] Pallister–Hall syndrome [5] Townes–Brocks syndrome [5] VACTERL with hydrocephalus [5] [8] Management [ edit ] This section is empty. ... Though the differences are clear, the physical defects vary from case to case. [ citation needed ] See also [ edit ] 22q11 deletion syndrome Absent radius CHARGE Association Feingold syndrome Pallister-Hall syndrome Townes-Brocks syndrome References [ edit ] ^ Hersh JH, Angle B, Fox TL, Barth RF, Bendon RW, Gowans G (2002). ... External links [ edit ] Classification D ICD - 10 : Q87.2 OMIM : 192350 MeSH : C536495, C536534 C536534, C536495, C536534 DiseasesDB : 13779 Wikimedia Commons has media related to VACTERL association . v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome
A number sign (#) is used with this entry because Loeys-Dietz syndrome-2 (LDS2) is caused by heterozygous mutation in the TGFBR2 gene (190182) on chromosome 3p24. ... The skeletal habitus was suggestive of Marfan syndrome. The ocular system was not involved. ... All these features have been associated with the Loeys-Dietz syndrome phenotype. In our experience, all patients with TGFBR mutations have had clinical features that can be used to discriminate the Loeys-Dietz syndrome from Marfan's syndrome or from familial thoracic aortic aneurysm and dissection. ... In 30 patients with Loeys-Dietz syndrome, 6 with a mutation in TGFBR1 and 24 with a mutation in TGFBR2, Sheikhzadeh et al. (2014) analyzed imaging findings for the presence of dural ectasia and compared them to 60 age- and sex-matched patients with Marfan syndrome (MFS; 154700) and mutations in FBN1 (134797). ... Seven (10%) of the 71 patients with TGFBR2 mutations fulfilled the Ghent criteria for Marfan syndrome, including 2 with ectopia lentis, compared with 140 (58%) of 243 patients in the FBN1 group (p less than 0.0001); 3 patients in the TGFBR2 group fulfilled the diagnostic criteria for both Loeys-Dietz and Marfan syndromes.
Description The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. ... Genetic Heterogeneity of Loeys-Dietz Syndrome LDS1 is caused by mutation in the TGFBR1 gene. ... They suggested that the 5 patients might represent variable expressivity of the same syndrome with mental retardation as an inconstant feature, or that there may be 2 distinct syndromes, one with mental retardation (Shprintzen-Goldberg syndrome; 182212) and one without (Furlong syndrome). Megarbane and Hokayem (1998) noted similarities between Shprintzen-Goldberg syndrome and Furlong syndrome and proposed dividing craniosynostosis with marfanoid habitus into 2 types, nominating type 1 as Shprintzen-Goldberg syndrome and type 2 as those with normal intelligence, aortic root abnormalities, and mild skeletal dysplasia. ... The syndrome showed autosomal dominant inheritance and variable clinical expression.
Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.
Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms , widely spaced eyes ( hypertelorism ), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). ... This condition is called Loeys-Dietz syndrome type 1 when affected individuals have cleft palate, craniosynostosis, and/or hypertelorism. Individuals without these features are said to have Loeys-Dietz syndrome type 2. The disease is caused by mutations in the TGFBR1 , the TGFBR2 , the SMAD3 or the TGFB2 genes.
Description Capillary malformation-arteriovenous malformation-1 is an autosomal dominant disorder characterized by atypical capillary malformations (CMs), often in association with fast-flow vascular malformations, including arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), and Parkes Weber syndrome (PKWS). The CMs are usually multifocal and are surrounded by a pale halo with a central red dot; they increase in number with age. ... Intracranial AVMs include vein of Galen aneurysmal malformations (VGAMs). Parkes Weber syndrome is a specific type of CMAVM that presents with limb overgrowth, more commonly affecting one of the lower extremities (Eerola et al., 2003; Revencu et al., 2013; Johnson and Navarro, 2017). Parkes Weber syndrome is characterized by a cutaneous blush with underling multiple micro-AVFs in association with soft-tissue and skeletal hypertrophy of the affected limb (Mulliken and Young, 1988). ... In these 6 families the capillary malformations were associated with arteriovenous malformation, arteriovenous fistula (AVF), or Parkes Weber syndrome. Eerola et al. (2003) named this phenotype caused by RASA1 mutations 'capillary malformation-arteriovenous malformation' (CMAVM). ... It is noteworthy that in certain families with CCM and mutations in KRIT1, some members also have cutaneous lesions characterized as hyperkeratotic capillary-venous malformations (Labauge et al., 1999; Eerola et al., 2000). History Parkes Weber syndrome was described by the same F. Parkes Weber (1863-1962) whose name is also attached to hereditary hemorrhagic telangiectasia (187300), Sturge-Weber syndrome (185300), Weber-Christian disease, and Klippel-Trenaunay-Weber syndrome (149000).
He considered it improper to add arteriovenous fistulas to the syndrome and on that basis to rename the disorder Klippel-Trenaunay-Weber syndrome. Although Parkes Weber syndrome (as Cohen called it) and Klippel-Trenaunay syndrome are similar, slow flow venous malformations are predominant in KTS, whereas arteriovenous fistulas are always found in Parkes Weber syndrome. ... Lymphatic malformations found in KTS do not occur in Parkes Weber syndrome. Cohen (2000) questioned whether Sturge-Weber syndrome and KTS are the same disorder. ... Molecular Genetics Sperandeo et al. (2000) described a family in which 1 first cousin had KTW syndrome and the other had Beckwith-Wiedemann syndrome (BWS; 130650). ... Kurek et al. (2012) found somatic mosaicism for a missense mutation in the PIK3CA gene (171834) in patients with CLOVE syndrome (612918), an overgrowth syndrome with features overlapping those of KTW syndrome.
Klippel-Trenaunay syndrome (KTS) is a syndrome that affects the development of blood vessels, soft tissues, and bones. This syndrome has three characteristic features: a red birthmark called a port-wine stain , overgrowth of soft tissues and bones, and vein malformations such as varicose veins or malformations of deep veins in the limbs. ... Medical researchers believe KTS is part of a group of disorders known as PIK3CA -related overgrowth spectrum (PROS) which also includes MCAP and CLOVES syndromes, hemimegalencephaly , fibroadipose hyperplasia, and epidermal nevus .
A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. ... Genetic counseling Although Angioosteohypertrophic syndrome generally appears to be sporadic, autosomal dominant inheritance has been noted in a few families.
Overview Klippel-Trenaunay (klih-PEL tray-no-NAY) syndrome ― also called KTS ― is a rare disorder found at birth (congenital) involving problems in the development of certain blood vessels, soft tissues (such as skin and muscles), bones and sometimes the lymphatic system. ... Diagnosis Diagnosis of Klippel-Trenaunay syndrome begins with a physical exam. Referral to a vascular malformations specialist is helpful for evaluation and treatment recommendations. ... If the doctor suspects that your child has this syndrome, diagnostic tests and treatment will likely begin before your child leaves the hospital. ... What medical conditions related to this syndrome need to be addressed right now? ... Can you suggest educational materials and local support services related to this syndrome? What to expect from your doctor Your child's doctor will ask you a number of questions, such as: What symptoms does your child have that concern you?
Most people with Klippel-Trenaunay syndrome are born with a port-wine stain. ... In people with Klippel-Trenaunay syndrome, the port-wine stain usually covers part of one limb. ... Causes Klippel-Trenaunay syndrome can be caused by mutations in the PIK3CA gene. ... Increased cell proliferation leads to abnormal growth of the bones, soft tissues, and blood vessels. Klippel-Trenaunay syndrome is one of several overgrowth syndromes, including megalencephaly-capillary malformation syndrome, that are caused by mutations in the PIK3CA gene. ... Learn more about the gene associated with Klippel-Trenaunay syndrome PIK3CA Inheritance Pattern Klippel-Trenaunay syndrome is almost always sporadic, which means that it occurs in people with no history of the disorder in their family.
Micrognathism Other names Micrognathia, strawberry chin, hypognathia [1] hypognathism Girl with Wolf–Hirschhorn syndrome Specialty Medical genetics Micrognathism is a condition where the jaw is undersized. ... Contents 1 Causes 2 Diagnosis 3 See also 4 References 5 External links Causes [ edit ] While not always pathological, it can present as a birth defect in multiple syndromes including: Catel–Manzke syndrome [3] Bloom syndrome Coffin–Lowry syndrome Congenital rubella syndrome Cri du chat syndrome DiGeorge syndrome Ehlers–Danlos syndrome Fetal alcohol syndrome Hallermann–Streiff syndrome Hemifacial microsomia (as part of Goldenhar syndrome ) Incontinentia pigmenti Juvenile idiopathic arthritis Marfan syndrome Möbius syndrome Noonan syndrome Pierre Robin syndrome Prader–Willi syndrome Progeria Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Treacher Collins syndrome Trisomy 13 (Patau syndrome) Trisomy 18 (Edwards syndrome) Wolf–Hirschhorn syndrome X0 syndrome ( Turner syndrome ) Diagnosis [ edit ] It can be detected by the naked eye as well as dental or skull X-Ray testing . [ citation needed ] See also [ edit ] Human mandible Macrognathism Retrognathism References [ edit ] ^ Martínez-Frías, ML; Martín, M; Pardo, M; Torres, M; Cohen MM, Jr (1993).
A number sign (#) is used with this entry because ABCD syndrome can be caused by homozygous mutation in the endothelin B receptor gene (EDNRB; 131244) and is thus allelic to some cases of Waardenburg-Shah syndrome (WS4A; 277580). Clinical Features Gross et al. (1995) described a new neural crest syndrome with autosomal recessive inheritance. ... Four sibs had died a few days after birth with the same syndrome. The other 9 sibs were healthy, with an unremarkable phenotype. This disorder has some similarity to the black lock-albinism-deafness syndrome (BADS; 227010) described by Witkop (1979). Molecular Genetics Noting the phenotypic overlap between ABCD syndrome and Waardenburg-Shah syndrome, Verheij et al. (2002) screened DNA from the child described by Gross et al. (1995) for mutations in the EDNRB gene and identified a homozygous nonsense mutation (131244.0008).
Trisomy 13 is a type of chromosome disorder characterized by having 3 copies of chromosome 13 in cells of the body, instead of the usual 2 copies. In some people, only a portion of cells contains the extra chromosome 13 (called mosaic trisomy 13), whereas other cells contain the normal chromosome pair. Trisomy 13 causes severe intellectual disability and many physical abnormalities, such as congenital heart defects; brain or spinal cord abnormalities; very small or poorly developed eyes (microphthalmia); extra fingers or toes; cleft lip with or without cleft palate ; and weak muscle tone (hypotonia). Most cases are not inherited and result from a random error during the formation of eggs or sperm in healthy parents. Trisomy 13 is diagnosed based on the symptoms, clinical exam, and confirmed by the results of a chromosome test.
A closely related disorder, Naegeli-Franceschetti-Jadassohn syndrome (NFJS; 161000), is also caused by heterozygous mutation in the KRT14 gene. ... Dermatopathia pigmentosa reticularis is closely related to another autosomal dominant ectodermal dysplasia syndrome, Naegeli-Franceschetti-Jadassohn syndrome (NFJS; 161000) (Lugassy et al., 2006). Among the most distinctive characteristics of these syndromes is the complete absence of dermatoglyphics. ... Mapping Both dermatopathia pigmentosa reticularis and Naegeli-Franceschetti-Jadassohn syndrome map to a common 6-cM interval on 17q11.2-q21 (Whittock et al., 2000; Sprecher et al., 2002), supporting the suggestion that NFJS and DPR are allelic disorders (Itin and Lautenschlager, 1998).
A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia, palmoplantar hyperkeratosis, acral dorsal blistering, and hypohidrosis or hyperhidrosis.
Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. ... Learn more about the gene associated with Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis KRT14 Inheritance Pattern This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.
A number sign (#) is used with this entry because of evidence that dyschromatosis universalis hereditaria-3 (DUH3) is caused by heterozygous mutation in the ABCB6 gene (605452) on chromosome 2q35. Description Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013). For a discussion of genetic heterogeneity of DUH, see DUH1 (127500). Clinical Features Zhang et al. (2013) studied a large Chinese family with dyschromatosis universalis hereditaria in which 13 members over 5 generations were affected. The proband was a 9-year-old boy who had normal skin at birth. Hyperpigmented and hypopigmented macules appeared initially on his trunk at age 2 years, then gradually extended to involve his face, neck, and limbs.
Three family members had undefined learning disabilities, but the authors stated that there was no evidence of other features of LEOPARD syndrome (see 151100) in the observed affected family members.
A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyper- and hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles and mucosa are usually not affected. Systemic abnormalities have been rarely reported.
Description Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013). For a discussion of genetic heterogeneity of dyschromatosis universalis hereditaria, see DUH1 (127500). Clinical Features Bukhari et al. (2006) reported a consanguineous Saudi Bedouin family in which 2 boys and 2 girls had dyschromatosis universalis hereditaria (DUH). The sibs presented during infancy or early childhood with multiple asymptomatic 2- to 5-mm maculae that were hypopigmented, depigmented and hyperpigmented, bilaterally symmetric, and scattered all over the body including the back, hands, feet, and face.