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A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.
ORPHA:2980Classification level: Disorder
Only 4 cases have been reported in the literature from 3 inbred sibships.
Facial dysmorphism is characterized by small head, downslanting palpebral fissures, broad base of the nose, micrognathia and malformed ears. Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly. Feet are small with a peculiar shape, wide space between toes 1 and 2 and syndactyly type 1 (see this term). The affected patients have no intellectual deficit.
The condition is most probably hereditary, transmitted as an autosomal recessive trait.