Arachnodactyly-intellectual disability-dysmorphism syndrome
Arachnodactyly-intellectual disability-dysmorphism syndrome
Definition
Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients.
Also known as De Die-Smulders-Vles-Fryns syndrome, die Smulders Vles Fryns syndrome — per MONDO