Craniofacial-deafness-hand syndrome

Craniofacial-deafness-hand syndrome (CDHS) is an extremely rare genetic disorder characterized by a distinctive combination of craniofacial abnormalities, sensorineural hearing loss, and hand anomalies. The condition was first described in the medical literature and affects multiple body systems, primarily the skeletal and sensory systems. Key clinical features include craniofacial malformations such as hypertelorism (widely spaced eyes), flat nasal bridge, small nose with hypoplastic nasal alae, and facial asymmetry. Sensorineural deafness, which may be profound, is a hallmark of the condition. Hand abnormalities typically include ulnar deviation of the fingers and other skeletal anomalies of the hands. Additional features may include a thin and flat upper lip, limited movement of the nose, and other minor skeletal findings. The syndrome is classified under ICD-10 code Q87.0, which encompasses other specified congenital malformation syndromes involving facial appearance. Due to the extreme rarity of this condition, there is no specific treatment available. Management is supportive and symptomatic, focusing on hearing rehabilitation (such as hearing aids or cochlear implants), surgical correction of craniofacial or hand anomalies where appropriate, and speech therapy. A multidisciplinary approach involving audiologists, craniofacial surgeons, orthopedic specialists, and geneticists is recommended for optimal care.

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