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Definition

A X-linked recessive syndrome characterized by craniofacial and digital abnormalities. Clinical features include a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and widening of all distal phalanges. Additional variable features are cognitive impairment and sensorineural deafness.

Acronym

KPTS

Synonyms

Nasodigitoacoustic syndrome

Keywords

Deafness
Mental retardation

 
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