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Orofaciodigital syndrome type 5
Disease definition
Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).
ORPHA:2919
- Synonym(s):
- OFD5
- Oral-facial-digital syndrome type 5
- Orofaciodigital syndrome, Thurston type
- Polydactyly postaxial with median cleft of upper lip
- Thurston syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.0
- OMIM: 174300
- UMLS: C1868118
- MeSH: -
- GARD: 4120
- MedDRA: -
Summary
Epidemiology
Less than 20 patients (predominantly of Indian origin) have been reported so far.
Etiology
Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.
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