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Orofaciodigital syndrome type 5
Disease definition
A rare orofaciodigital syndrome characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).
ORPHA:2919
Classification level: Disorder- 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
- ICD-11: LD25.00
- OMIM: 174300
- UMLS: C1868118
- MeSH: C557819
- GARD: 4120
- MedDRA: -
A summary on this disease is available in Deutsch (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)
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