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Odonto-tricho-ungual-digito-palmar syndrome
Disease definition
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997.
ORPHA:69082
Classification level: Disorder- Synonym(s):
- OTUDP syndrome
- Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: -
- OMIM: 601957
- UMLS: C1865998
- MeSH: -
- GARD: -
- MedDRA: -
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