Arachnodactyly - intellectual disability - dysmorphism
Don’t fight Arachnodactyly - intellectual disability - dysmorphism alone.
Find your community on the free RareGuru App.Connect with other caregivers and patients with Arachnodactyly - intellectual disability - dysmorphism and get the support you need.
Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1130
Definition
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Connect with other users with Arachnodactyly - intellectual disability - dysmorphism on the RareGuru app
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
