The other patient was a 7-year-old girl who had brachycephaly, small forehead, large ears, thin nose, thin lips, irregular margins of the teeth, asymmetric chest with pectus excavatum, delayed bone age, and mild to moderate mental retardation. Reviewing the 28 previously reported cases of hairy elbows, Polizzi et al. (2005) stated that individuals with hairy elbows could be grossly divided into 2 groups: those with and those without associated systemic findings.
Description The KMT2A gene, or MLL, encodes a DNA-binding protein that methylates histone H3 (see 602810) lys4 (H3K4) and positively regulates expression of target genes, including multiple HOX genes (see 142980). MLL is a frequent target for recurrent translocations in acute leukemias that may be characterized as acute myeloid leukemia (AML; 601626), acute lymphoblastic leukemia (ALL), or mixed lineage (biphenotypic) leukemia (MLL). Leukemias with translocations involving MLL possess unique clinical and biologic characteristics and are often associated with poor prognosis. MLL rearrangements are found in more than 70% of infant leukemias, whether the immunophenotype is more consistent with ALL or AML6, but are less frequent in leukemias from older children. MLL translocations are also found in approximately 10% of AMLs in adults, as well as in therapy-related leukemias, most often characterized as AML, that develop in patients previously treated with topoisomerase II inhibitors for other malignancies.
Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.
. ^ Families & Health Archived March 28, 2009, at the Wayback Machine , American Association for Marriage and Family Therapy ^ Diefenbach GJ, Reitman D, Williamson DA (April 2000).
Contents 1 Causes 2 Treatment 3 Epidemiology 4 History 5 References 6 External links Causes [ edit ] Erythroderma is generalized exfoliative dermatitis, which involves 90% or more of the patient's skin. [3] The most common cause of erythroderma is exacerbation of an underlying skin disease, such as psoriasis , contact dermatitis , seborrheic dermatitis , lichen planus , pityriasis rubra pilaris or a drug reaction, such as the use of topical steroids. [4] Primary erythroderma is less frequent and is usually seen in cases of cutaneous T-cell lymphoma , in particular in Sézary's disease . [5] The most common causes of exfoliative dermatitis are best remembered by the mnemonic device ID-SCALP. [3] The causes and their frequencies are as follows: Idiopathic - 30% Drug allergy - 28% Seborrheic dermatitis - 2% Contact dermatitis - 3% Atopic dermatitis - 10% Lymphoma and leukemia - 14% Psoriasis - 8% Treatment [ edit ] The treatment for erythroderma depends on the primary cause.
Archived from the original on 2010-10-30 . Retrieved 2010-11-28 . ^ a b Takayasu Arteritis - Pediatrics at eMedicine ^ a b Shikino, Kiyoshi; Masuyama, Takako; Ikusaka, Masatomi (2014).
Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals. Children with Miller syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia ). They often have an opening in the roof of the mouth (cleft palate ) and/or a split in the upper lip (cleft lip ). These abnormalities frequently cause feeding problems in infants with Miller syndrome. The airway is usually restricted due to the micrognathia, which can lead to life-threatening breathing problems.
Miller syndrome is a rare condition that mainly affects the development of the face and limbs. Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate , abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and lower legs. The severity of the disorder varies among affected individuals. Miller syndrome is caused by mutations in the DHODH gene. It is inherited in an autosomal recessive manner.
A number sign (#) is used with this entry because of evidence that postaxial acrofacial dysostosis (POADS), also known as Miller syndrome, is caused by compound heterozygous mutation in the DHODH gene (126064) on chromosome 16q22. Description Miller syndrome, or postaxial acrofacial dysostosis, is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by Ng et al., 2010). Clinical Features Miller et al. (1979) described 3 patients with postaxial limb deficiency, cup-shaped ears, and malar hypoplasia, and reviewed other reported cases. An affected sib of one of the patients of Miller et al. (1979) was reported by Fineman (1981). Donnai et al. (1987) reviewed 7 published cases and 3 personally observed and previously unreported cases.
A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar hypoplasia. Epidemiology Less than 30 cases of Postaxial acrofacial dysostosis (POADS) have been described in the literature. Clinical description Clinical features further include cholestasis, bilateral inguinal hernia and cleft palate. The patients can develop myopic astigmatism and speech delay can be present. Facial features include sparse eyebrows, almond shaped eyes with up-slanting palpebral fissures, malar hypoplasia, long philtrum, small mouth, and low-set, malformed ears.
A 73-year-old man had a 3-year history of lower limb myalgia and muscle weakness, and an unrelated 39-year-old man reported a 3-month history of limb myalgia and fatigability. The fourth patient was a 28-year-old man who had increased serum creatine kinase but no muscular symptoms; both his asymptomatic father and son also had increased serum creatine kinase.
This article incorporates public domain material from the Occupational Safety and Health Administration document: "Beryllium" . Retrieved 28 March 2016 . This article incorporates public domain material from the United States Department of Health and Human Services website http://www.atsdr.cdc.gov/toxguides/toxguide-4.pdf .
"Kocher Debre Semelaigne Syndrome: A Rare Case Report with Orofacial Manifestations" . Oman Medical Journal . 28 (2): 128–130. doi : 10.5001/omj.2013.33 .
Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term). Epidemiology Prevalence is unknown. Clinical description The syndrome usually presents between 18 months and 10 years but has been reported at earlier ages including during the neonatal period. Patients present with clinical features of hypothyroidism, including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia, along with muscle pseudohypertrophy. Pseudohypertrophy involves the muscles of the extremities, limb girdle, trunk, hands and feet but is more prominent in the limbs, resulting in an athletic appearance. Etiology The etiology of the muscle pseudohypertrophy is not known but it is thought to be a result of long standing hypothyroidism.
Detection by immunoperoxidase staining for lactoferrin and cytochemical electron microscopy" . Am. J. Pathol . 99 (2): 413–28. PMC 1903492 . PMID 6155073 . ^ a b Wynn RF, Sood M, Theilgaard-Mönch K, Jones CJ, Gombart AF, Gharib M, Koeffler HP, Borregaard N, Arkwright PD (2006).
A number sign (#) is used with this entry because of evidence that specific granule deficiency-1 (SGD1) is caused by homozygous mutation in the CEBPE gene (600749) on chromosome 14q11. Genetic Heterogeneity of Specific Granule Deficiency See also SGD2 (617475), caused by mutation in the SMARCD2 gene (601736) on chromosome 17q23. Clinical Features In mammals, neutrophils contain 2 principal types of granules. The first type, azurophil granules, appear early in neutrophil development and contain lysosomal enzymes, lysozyme (LYZ; 153450), and myeloperoxidase (MPO; 606989). The second type, specific granules, are formed later, lack MPO and hydrolases, but contain lactoferrin (LF; 150210) and the remainder of the cell's complement of lysozyme.
A number sign (#) is used with this entry because of evidence that specific granule deficiency-2 (SGD2) is caused by homozygous mutation in the SMARCD2 gene (601736) on chromosome 17q23. Description Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by Witzel et al., 2017).
A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails.
In a study of 555 (out of 80,000) schoolchildren below the third percentile in height for age with growth rates below normal (<5 cm/y), twice as many boys as girls were affected. CDGP was found in 28% of boys and 24% of girls, and another 18% of boys and 16% of girls had familial short stature in combination with CDGP.
. ^ "abort - haigekassa.ee" (in Estonian). Estonian Health Insurance Fund. 28 February 2011. Archived from the original on 27 July 2011. ^ Estonia: abortion rates by county, 2000-2006 ^ " Abortide arv langeb jätkuvalt ".
A number sign (#) is used with this entry because of evidence that rhizomelic chondrodysplasia punctata type 5 (RCDP5) is caused by homozygous mutation in the PEX5 gene (600414) on chromosome 12p13. Description Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005). For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see 215100.
A number sign (#) is used with this entry because rhizomelic chondrodysplasia punctata type 2 (RCDP2) is caused by homozygous or compound heterozygous mutation in the DHAPAT gene (GNPAT; 602744), which encodes acyl-CoA:dihydroxyacetonephosphate acyltransferase, on chromosome 1q42. Description Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (215100) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).
A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures. Epidemiology Rhizomelic chondrodysplasia punctata (RCDP) prevalence is estimated to be lower than 1/100,000. The disorder is pan ethnic. Clinical description Presentation is at birth with severe joint contractures; cataracts may be present or appear in the first few months of life. Respiratory distress nd feeding difficulties are commonly observed after birth. Whilst birth parameters (weight, length, and head circumference) are in the lower range from normal, profound postnatal growth retardation ensues.
Cataracts are present in about 72% of cases, and skin changes in about 28% (Spranger et al., 1971). The coronal cleft of the vertebral bodies is demonstrable radiologically and appears to represent embryonic arrest with cartilage occupying the cleft between the anterior and posterior parts of the vertebral bodies (Wells et al., 1992).
Rhizomelic chondrodysplasia punctata (RCDP) is a type of peroxisomal disorder which impairs the normal development of many parts of the body. It is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). People with RCDP have very poor growth and often develop joint deformities (contractures) that make the joints stiff and painful. Other major features include distinctive facial features, intellectual disability, clouding of the lenses of the eyes (cataracts), heart defects, and respiratory problems. There are 5 types of RCDP, classified according to the associated gene mutations: RCDP1 with PEX7 gene RCDP2 with GNPAT gene RCDP3 with AGPS gene RCDP4 (peroxisomal fatty acyl-CoA reductase 1 disorder) with FAR1 gene RCDP5 with PEX5 gene All these genes are involved in the formation and function of sac-like cell structures called peroxisomes that contain enzymes needed to break down many substances, including fatty acids known as plasmalogens.
MRI at 25 weeks of gestation revealed micrognathia, fixed extension of the arms, and flexion of the elbows, wrists, and hands; at 28 weeks, intrauterine growth retardation (IUGR) became evident.
