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Orofaciodigital syndrome type 5
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:2919Classification level: Disorder
- 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: -
Less than 20 patients (predominantly of Indian origin) have been reported so far.
Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.