Brachyolmia, Maroteaux type

Orpha code: 93302OMIM code: 613678

Definition

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
Classification

Malformation syndrome

Synonyms
Brachyolmia type 2
Brachyolmia typu 2
ORPHA code
93302
OMIM code
613678
ICD10 code
Q76.3
ICD11 code
-

No additional description.

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