/multiple congenital anomalies/dysmorphic syndrome-intellectual disability

/aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

Rare Disease

MONDO:0017934

Also Known As

aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndromeaphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome

Definition

Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.