craniofacial-deafness-hand syndrome
Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features.
MONDO:0003847
hereditary disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
CDHS
exact
Sommer-Young-Wee-Frye syndrome
exact
craniofacial deafness hand syndrome
related
craniofacial-deafness-hand syndrome
exact
features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss
related