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Orocraniodigital Syndrome

Abstract

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Synonyms of Orocraniodigital Syndrome

  • Cleft Lip/Palate with Abnormal Thumbs and Microcephaly
  • Cranio-Oro-Digital Syndrome
  • Digital-Oro-Cranio Syndrome
  • Juberg Hayward Syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Orocraniodigital syndrome is an extremely rare inherited disorder characterized by multiple malformations of the head and face (craniofacial area) and the fingers and toes (digits). Major characteristics may include a vertical groove in the upper lip (cleft lip) and/or the inside, upper portion of the mouth (cleft palate), an abnormally small head (microcephaly), widely spaced eyes (ocular hypertelorism), improper development (hypoplasia) of the thumbs and/or toes, and/or webbing (syndactyly) of the toes. In some cases, malformations of certain skeletal bones may also be present. Mental retardation has occurred in the majority of cases. Orocraniodigital syndrome may be inherited as an autosomal recessive genetic trait.

Organizations related to Orocraniodigital Syndrome

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