Craniosynostosis, Herrmann-Opitz type

Orpha code: 2145OMIM code:

Definicja

Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
2145
Kod OMIM
-
Kod ICD10
Q75.0
Kod ICD11
LD24.GY

No additional description.

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