Craniosynostosis, Herrmann-Opitz type

Orpha code: 2145OMIM code:

Definition

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
Classification

Malformation syndrome

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

No additional description.

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