Thoracic dysplasia-hydrocephalus syndrome is an extremely rare primary bone dysplasia syndrome characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay.
Winter et al. (1987) described 2 sibs of opposite sex, the offspring of consanguineous Pakistani parents, with an apparently 'new' syndrome. The main features were short ribs with a narrow chest and thoracic dysplasia, mild shortening of the limbs, communicating hydrocephalus, and developmental delay.
Dobrow syndrome is a rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.
Shprintzen–Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.
Clinical Features Shprintzen and Goldberg (1979) described a 'new' autosomal dominant malformation syndrome characterized by mildly dysmorphic facies, omphalocele, scoliosis, learning disabilities, and pharyngeal and laryngeal hypoplasia. ... (Shprintzen's name is also associated with the velocardiofacial syndrome (192430), which he first described, and with the Shprintzen-Goldberg craniosynostosis syndrome (182212).) ... Zelante et al. (2006) concluded that this patient represented a second observation of the syndrome described by Shprintzen and Goldberg (1979).
Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).
Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities.
Cousin syndrome is a rare syndrome characterized mainly by short stature at birth, unusual facial appearance and skeletal abnormalities involving the shoulder blades and hips.
A number sign (#) is used with this entry because of evidence that Cousin syndrome is caused by homozygous mutation in the TBX15 gene (604127) on chromosome 1p12. ... Lausch et al. (2008) described 2 unrelated girls with Cousin syndrome, each born to consanguineous parents. ... Molecular Genetics By sequence analysis of the TBX15 gene in 2 unrelated girls with Cousin syndrome, Lausch et al. (2008) identified homozygosity for a different single-nucleotide deletion in each girl (604127.0001-604127.0002). ... Animal Model Lausch et al. (2008) identified the Tbx15-deficient mouse phenotype as a possible model of Cousin syndrome. Similar features included small overall size, hypoplastic scapula, and abnormalities of the cranial bones and cervical vertebrae.
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. ... Pelviscapular dysplasia is phenotypically similar to pelvis-shoulder dysplasia (Kosenow syndrome, scapuloiliac dysostosis; see this term), and the two entities may represent different manifestations of the same disease. However, Kosenow syndrome is not associated with craniocervical abnormalities and seems to be inherited as an autosomal dominant trait.
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. ... In addition, the patients presented with skin, iris and hair hypopigmentation and abnormal adipose tissue distribution. Etiology The syndrome is caused by an interstitial deletion of paternal origin at 20q13.2q13.3.
Waltman Walter syndrome Waltman Walters syndrome [1] is characterized by accumulation of bile in the right subphrenic or subhepatic space, even when provision for drainage appears to have been adequate after a cholecystectomy . ... References [ edit ] ^ McNair TJ (1972). "The Waltman Walters syndrome". J R Coll Surg Edinb . 17 (3): 185–9.
Please help improve it to make it understandable to non-experts , without removing the technical details. ( September 2015 ) ( Learn how and when to remove this template message ) Rasmussen syndrome Specialty Dermatology/oncology Rasmussen syndrome is a condition characterized by multiple trichoepitheliomas . [1] [2] See also [ edit ] List of cutaneous neoplasms associated with systemic syndromes List of cutaneous conditions References [ edit ] ^ Bolognia, Jean L.; et al. (2007).
A rare inflammatory and autoimmune disease with epilepsy characterized by unilateral hemispheric atrophy, associated with drug-resistant focal epilepsy, progressive hemiplegia, and cognitive decline. The disease mainly affects children and begins with a prodromal period with mild hemiparesis or infrequent seizures lasting up to several years. The acute stage is marked by frequent seizures arising from one cerebral hemisphere, followed by a residual stage with persistent severe neurological deficits and relapsing epilepsy.
Rasmussen encephalitis is a chronic inflammatory neurological disease that usually affects only one hemisphere of the brain. It most often occurs in children under the age of 10, although adolescents and adults may also be affected. Rasmussen encephalitis is characterized by frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body (hemiparesis), inflammation of the brain (encephalitis), and mental deterioration. While the cause of Rasmussen encephalitis is unknown, there is evidence that in many patients it is an autoimmune disorder. Immune therapy and surgery may be used for treatment.
Leschke syndrome is a condition characterized by growth retardation and intellectual disability . [1] The syndrome is named after German internist Erich Leschke . Further symptoms may include diabetes mellitus , genital hypoplasia , and hyperthyroidism . [2] See also [ edit ] Silver–Russell syndrome List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
ANOTHER syndrome Other names Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome This condition is inherited in an autosomal recessive manner Specialty Dermatology ANOTHER syndrome consists of alopecia , nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis , ephelides and enteropathy , and respiratory tract infections . [1] : 502 This is an autosomal recessive variant of ectodermal dysplasia . [1] : 502 See also [ edit ] Skin lesion List of cutaneous conditions References [ edit ] ^ a b James, William; Berger, Timothy; Elston, Dirk (2005).
Clinical Features Pabst et al. (1981) reported 2 brothers with hypohidrotic ectodermal dysplasia, primary hypothyroidism of gradual development in early childhood, and ciliary dyskinesia or dysgenesis in the bronchial epithelium leading to or at least contributing to severe recurrent chest infections. In addition to sparse hair of the head and eyebrows and a shriveled appearance of several fingernails and toenails, the brothers showed urticaria pigmentosa-like skin and mucosal pigmentation with increased mast cells and melanin deposition. Eyelashes and teeth were normal. Electron microscopy showed abnormality of the microtubular structure in bronchial cilia. Pike et al. (1986) described this disorder in a girl and suggested the acronym ANOTHER (alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy, and respiratory tract infections) for this disorder. Animal Model Pabst (1980) pointed out that the 'nude' mouse combines ciliary abnormality and thymic cysts with ectodermal dysplasia (Cordier (1974, 1976)).
A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia.
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. ... Carrier females present with a short stature and early menopause. Etiology This syndrome is caused by an Xq27.3q28 interstitial duplication encompassing the FMR1 and AFF2 genes but not the MECP2 gene.
Description Chromosome Xq27.3-q28 duplication syndrome is an X-linked recessive neurodevelopmental disorder characterized by mild mental retardation, mild facial dysmorphism, short stature, and primary testicular failure manifest as high-pitched voice, sparse body hair, abdominal obesity, and small testes. ... Clinical Features Rio et al. (2010) reported a French family in which 3 adult males had syndromic mild mental retardation. All had low birth weight, reflecting intrauterine growth retardation, and delayed psychomotor development. ... Inheritance The transmission pattern of the chromosome Xq27.3-q28 duplication syndrome in the family reported by Rio et al. (2010) was consistent with X-linked recessive inheritance. Cytogenetics Using array CGH in a French family with X-linked syndromic mental retardation, Rio et al. (2010) identified a 5.1-Mb duplication of chromosome Xq27.3-q28 encompassing at least 28 genes.
Hemolytic uremic syndrome (HUS) is a disorder that usually occurs when an E. coli bacterial infection in the digestive system produces toxic substances that destroy red blood cells. ... Treatment may include dialysis, corticosteroids, transfusions of packed red blood cells and plasmapheresis . Hemolytic uremic syndrome should be distinguished from atypical hemolytic uremic syndrome (aHUS).
An autosomal recessive disease characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has material basis in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. Oliver–McFarlane syndrome Other names Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Oliver–McFarlane syndrome is a condition characterized by hypertrichosis of the eyebrows and eyelashes. [1] See also [ edit ] Ollier disease List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
A number sign (#) is used with this entry because of evidence that Oliver-McFarlane syndrome (OMCS) is caused by compound heterozygous mutation in the PNPLA6 (603197) gene on chromosome 19p13. ... Corby et al. (1971) reported a case of the full syndrome. Delleman and Van Walbeek (1975) described a case in a 24-year-old man who had been under observation for 19 years. ... Patton et al. (1986) reported a Caucasian male with typical features of Oliver-McFarlane syndrome. He presented at 2 years of age with failure to thrive. ... Sonmez et al. (2008) described a 13-year-old boy with Oliver-McFarlane syndrome who had prominent early pituitary dysfunction. ... Inheritance The transmission pattern of Oliver-McFarlane syndrome in the family reported by Haimi and Gershoni-Baruch (2005) was consistent with autosomal recessive inheritance.
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.
Genetic Heterogeneity of Bruck Syndrome Bruck syndrome-2 (609220) is caused by homozygous mutation in the PLOD2 gene (601865) on chromosome 3q24. Van der Slot et al. (2003) stated that they were unaware of any phenotypic differences between the 2 forms of Bruck syndrome. Clinical Features Petajan et al. (1969) described an arthrogryposis-like syndrome in the Eskimo, which they called Kuskokwim disease for the Kuskokwim Delta area where it was observed. ... Shaheen et al. (2010) showed that Bruck syndrome is an autosomal recessive disorder. ... Ha-Vinh et al. (2004) also suggested that the designation 'Bruck syndrome' proposed by Viljoen et al. (1989) is a misnomer for the same reason. Using a mapping approach based on homozygosity by descent in a consanguineous family with Bruck syndrome reported by Breslau-Siderius et al. (1998), Bank et al. (1999) found evidence that the locus responsible for Bruck syndrome maps to an 18-cM interval on 17p12.
A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.
Kuskokwim disease is a congenital (present at birth) contracture disorder that occurs solely among Yup'ik Eskimos in and around the Kuskokwim River delta region of southwest Alaska. Affected individuals usually, but not always, have congenital contractures of large joints (especially knees and/or elbows) and spinal, pelvic, and foot deformities. Other skeletal features have also been reported. Kuskokwim disease has been shown to be caused by mutations in the FKBP10 gene and is inherited in an autosomal recessive manner.
Functional somatic syndrome Specialty Psychiatry The term functional somatic syndrome ( FSS ) refers to a group of chronic diagnoses with no identifiable organic cause. ... "Psychological Trauma and Functional Somatic Syndromes: A Systematic Review and Meta-Analysis" . ... "Emotional, physical, and sexual abuse in fibromyalgia syndrome: A systematic review with meta-analysis" . ... "Prevalence of post-traumatic stress disorder in fibromyalgia patients: Overlapping syndromes or post-traumatic fibromyalgia syndrome?". ... "One single diagnosis, bodily distress syndrome, succeeded to capture 10 diagnostic categories of functional somatic syndromes and somatoform disorders" .
There was great hope that Colchicine could be a primary preventive measure in treating Post-Pericardiotomy Syndrome due to its anti-inflammatory effects. [6] In the COPPS-2 trial, however, perioperative use of colchicine compared with placebo reduced the incidence of postpericardiotomy syndrome but not of postoperative AF or postoperative pericardial/pleural effusion. ... See also [ edit ] Skin lesion Dressler syndrome References [ edit ] ^ a b c d e f g M. Silvana Horenstein (April 30, 2009). "Postpericardiotomy syndrome" . eMedicine from WebMD. Cite journal requires |journal= ( help ) ^ a b c Marc. ... Kaminsky; Rodan B.; Osborn D.; Chen J.; Sealy W.; Putman C. "Postcardiotomy syndrome" (PDF) . American Journal of Roentgenology. ... "Colchicine for Prevention of Postpericardiotomy Syndrome and Postoperative Atrial Fibrillation.
19p13.13 deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 19 is deleted in each cell. ... Other signs and symptoms that can occur with 19p13.13 deletion syndrome include seizures, abnormalities of brain structure, and mild differences in facial features (such as a prominent forehead ). ... The signs and symptoms of 19p13.13 deletion syndrome vary among affected individuals. ... The signs and symptoms of 19p13.13 deletion syndrome result from the loss of multiple genes in the deleted region. ... Learn more about the genes and chromosome associated with 19p13.13 deletion syndrome CACNA1A CALR chromosome 19 Additional Information from NCBI Gene: BEST2 MAST1 NFIX Inheritance Pattern 19p13.13 deletion syndrome is typically not inherited but results from the deletion of a chromosomal segment during the formation of reproductive cells (eggs and sperm) or in early fetal development.
A number sign (#) is used with this entry because of evidence that this disorder is a contiguous gene deletion syndrome (Chr19:12.79-13.10 Mb, NCBI36). ... Dolan et al. (2010) noted that patients 2 and 3 in their study and the patient of Auvin et al. (2009) had undergone NSD1 (606681) testing to rule out Sotos syndrome (117550), which was negative. The second clinical manifestation includes ophthalmologic abnormalities such as strabismus and optic nerve atrophy or hypoplasia.
A number sign (#) is used with this entry because of evidence that Eiken syndrome is caused by homozygous mutation in the PTHR1 gene (168468) on chromosome 3p21. ... Duchatelet et al. (2005) noted that the skeletal features of Eiken syndrome are opposite to those in Blomstrand chondrodysplasia (215045), in which patients have advanced skeletal maturation. ... Mapping By linkage analysis with the original pedigree, Duchatelet et al. (2005) mapped Eiken syndrome to an approximately 50-cM region of chromosome 3p, between markers D3S2338 and D3S1285. ... Eiken syndrome is clinically distinct from Jansen (156400) and Blomstrand (215045) chondrodysplasias and from enchondromatosis (166000), which are also caused by PTHR1 mutations. In a 7-year-old boy with Eiken syndrome, who was born to unaffected first-cousin parents, Moirangthem et al. (2018) identified a homozygous missense mutation at a conserved residue in the PTHR1 gene (E35K; 168468.0015).
Eiken syndrome This condition is inherited in an autosomal recessive manner Eiken syndrome is a rare [1] autosomal bone dysplasia with a skeletal phenotype which has been described in a unique consanguineous family, where it segregates as a recessive trait . [2] [3] References [ edit ] ^ Hoogendam, Jakomijn; Farih-Sips, Hetty; C. ... "Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes" . Human Molecular Genetics .
A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation.