Orofaciodigital syndrome type 14
Synonyms: Microcephaly-cerebral malformation-orofaciodigital syndrome | OFD14 | Oral-facial-digital syndrome type 14
Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome with autosomal recessive inheritance and C2CD3 mutations 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). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign on brain imaging are also associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Orofaciodigital syndrome type 14?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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