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Cleft palate with coloboma of eye and deafness syndrome (disorder)

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A multiple congenital anomalies syndrome with manifestations of cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature and radio-ulnar synostosis. To date, 4 cases have been described in the literature. These manifestations overlap with those of CHARGE syndrome, however, in contrast to CHARGE syndrome, patients with Abruzzo-Erikson syndrome do not show intellectual disability, choanal atresia or genital hypoplasia. Inherited in an X-linked recessive manner, with a carrier female having a 50% chance of transmitting the mutation to her offspring.

Term info

Label

Cleft palate with coloboma of eye and deafness syndrome (disorder)

Synonyms
  • Abruzzo Erickson syndrome
  • CHARGE-like syndrome
  • Cleft palate with coloboma of eye and deafness syndrome
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