Clinical Signs
Absent/decreased eyebrows; Absent/decreased lashes; Ambiguous genitalia; Anotia/microtia; Autosomal recessive inheritance; Dry skin; Expressionless face; Fine hair; Flat cheek bones; Low set ears; Macrostomia; Microdontia; Sparse/absent scalp hair (generalized); Speech defect; Squint/paresis of ocular muscles; Symphalangy; Umbilical hernia; Gynecomastia/breast enlargement; Hypoplastic/absent nipples; Hypospadias/epispadias; Mental retardation (mild); Micropenis/small penis; Undescended/ectopic testes; Abnormal cry/voice; Broad nose; Coarse face; Coarse/thick hair; Corneal clouding/opacity; Depressed nasal bridge; Difficulties for feeding in infancy; Dolicho/scaphocephaly; Ear anomaly (shape/structure); Ectropion; External auditory meatus atretic/absent; High vaulted/narrow palate; Hypertelorism; Increased body hair; Lids/lashes anomalies; Loose skin; Low hair line (front); Metabolism of aminoacids abnormal; Microcephaly; Micrognasia/retrognasia; Narrow/sloping shoulders; Nystagmus; Premature erruption of teeth; Prematurely aged face; Retinal detachment; Short stature/dwarfism; Skin hypoplasi/atrophy; Telecanthus; Thin ala nasi; Thin lips
Information provided by Orphanet. Updated: 25/03/2007