has material basis in germline mutation in PAX3 hereditary disease craniofacial-deafness-hand syndrome https://rarediseases.info.nih.gov/diseases/1571/craniofacial-deafness-hand-syndrome https://www.malacards.org/card/craniofacial_deafness_hand_syndrome CDHS DOID:0111336 SCTID:702362004 ICD9:759.89 MESH:C536453 Sommer-Young-Wee-Frye syndrome craniofacial-deafness-hand syndrome Orphanet:1529 icd11.foundation:1355682887 craniofacial deafness hand syndrome OMIM:122880 GARD:0001571 MONDO:0007395 MEDGEN:377694 UMLS:C1852510 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. features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss multiple congenital anomalies/dysmorphic syndrome without intellectual disability