Spondylometaphyseal dysplasia, Sedaghatian type

Orpha code: 93317OMIM code: 250220

Definition

Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

Disease data
Classification

Malformation syndrome

ORPHA code
93317
OMIM code
250220
ICD10 code
Q77.8
ICD11 code
-

No additional description.

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