Brachyolmia, Maroteaux type

Orpha code: 93302OMIM code: 613678

Definicja

A rare genetic spondylodysplastic dysplasia characterized by short trunk/short stature, generalized platyspondyly with rounding of vertebral bodies. The vertebral bodies show less elongation compared to patients with other types of the disorder. Precocious calcification of the cerebral falx and non-specific minor facial anomalies may be associated. There have been no new reports since 1989.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Brachyolmia type 2
Brachyolmia typu 2
Kod ORPHA
93302
Kod OMIM
613678
Kod ICD10
Q76.3
Kod ICD11
-

No additional description.

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