Astley-Kendall dysplasia

Orpha code: 85175OMIM code:

Definition

A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.

Disease data
Classification

Malformation syndrome

ORPHA code
85175
OMIM code
-
ICD10 code
Q77.3
ICD11 code
-

No additional description.

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