orofaciodigital syndrome XIV

An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft

An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13.

Signs and symptoms

• Trigonocephaly
• Broad hallux
• CNS hypomyelination
• Microcephaly
• Micropenis
• Partial agenesis of the corpus callosum
• Upslanted palpebral fissure
• Severe intellectual disability
• Cerebellar vermis hypoplasia
• Postaxial hand polydactyly