A rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).
A rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood.
Description Anterior polar cataracts are small opacities on the anterior surface of the lens. They usually do not interfere with vision (Moross et al., 1984). The preferred title/symbol of this entry was formerly 'Cataract, Anterior Polar, 2; CTAA2.' Mapping By genetic linkage analysis with microsatellite markers in a 4-generation pedigree, Berry et al. (1996) identified a locus for an autosomal dominant anterior polar cataract on 17p. A maximum lod score of 4.01 at theta = 0.05 was obtained for marker D17S849 and a maximum lod score of 4.17 at theta = 0.05 for D17S796. Multipoint analysis gave a maximum lod score of 5.2. History Hejtmancik (1998) presented a table of 9 loci, including this one, that had been implicated in nonsyndromal cataract and mapped to specific chromosomal sites.
Because one form of ARVD (107970) had been mapped to 14q23-q24, the tentative location of a cataract locus, the authors suggested the possibility of pleiotropy or a contiguous gene syndrome. Molecular Genetics Exclusion Studies In affected members of 3 Moroccan Jewish families with autosomal dominant posterior polar cataract mapping to chromosome 14q22-q23, Pras et al. (2006) excluded mutations in the SIX1 (601295), SIX4 (606342), SIX6 (606326), OTX2 (600037), and ARHJ (607653) genes.
In a brother and sister from one family and a girl from a second, unrelated family, Partington and Anderson (1994) described a seemingly new syndrome comprising pre- and postnatal growth deficiency, developmental delay, a friendly personality, microcephaly, and a distinctive facial appearance marked by thick eyebrows, full cheeks, and a short nose with the columella inserted below the nasal alae.
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development).
The CMT disease was of a slow nerve conduction type. See 311070 for a syndrome that comprises optic atrophy in addition to nerve deafness and a Charcot-Marie-Tooth-like neuropathy and 118300 for a dominant form of the CMT-deafness syndrome.
The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication.
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma.
A number sign (#) is used with this entry because of evidence that this syndrome is caused by homozygous mutation in the gene encoding R-spondin-1 (RSPO1; 609595) on chromosome 1p34. Clinical Features Guerriero et al. (2000) reported a 60-year-old man with familial scleroatrophic syndrome of Huriez (181600) who had developed squamous cell carcinomas on the affected skin of the right palm.
A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine).
Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development.
Ladda et al. (1993) described the cases of 2 brothers with severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chromosomes were normal, and molecular studies using DNA markers showed no evidence of submicroscopic deletion from the Xq12-q13 region, where the locus for hypohidrotic ectodermal dysplasia is situated. The parents and a sister were normal. Neuro - Psychomotor retardation Inheritance - X-linked Joints - Severe congenital contractures Lab - Normal chromosomes Growth - Growth retardation Mouth - Cleft lip/palate Skin - Ectodermal dysplasia ▲ Close
Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).
A rare, genetic, syndromic intellectual disability disease characterized by global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels.
Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named “trimorphic syndrome” (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia.
A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back.
A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth.
A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy.
A rare overgrowth syndrome with skeletal involvement characterized by pre- or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones.
Delayed puberty in the girl and cryptorchidism and hypospadias in the younger boy raised the possibility that hypogonadism is a syndromic constituent. Common facial features included puffy eyelids, mild hypertelorism, depressed nasal bridge, and full lower lip.
A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability.
Battaglia and Gurrieri (1999) found that the patient of Battaglia et al. (1996) showed absence of the maternal allele of proximal 15q consistent with the diagnosis of Angelman syndrome (105830). Studies of 2 of the 4 originally reported sibs (Gurrieri et al., 1992) showed no abnormalities of 15q. Orrico et al. (1999) described 2 sibs, a brother and sister, with features suggesting Gurrieri syndrome but with some new features that were thought to expand the clinical spectrum of the disorder.
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome is a rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions.