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Terminal osseous dysplasia-pigmentary defects syndrome
Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
ORPHA:88630Classification level: Disorder
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: X-linked dominant
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.2
- OMIM: 300244
- UMLS: C1846129
- MeSH: -
- GARD: -
- MedDRA: -
It has been described in 18 females, six of whom came from four different generations of the same family.
Phenotypic expression is very heterogeneous. In the majority of patients, the bone dysplasia is limited to the hands and feet but shortening and/or bowing of the bones of the arms and legs has been reported in severe cases. The pigmentary lesions and digital fibromatosis appear a few months after birth.
The causative gene remains unknown.
The syndrome is transmitted as an in utero male-lethal X-linked dominant trait, explaining the large number of miscarriages reported in the affected families.