Spondyloepimetaphyseal dysplasia, aggrecan type

Orpha code: 171866OMIM code: 612813

Definition

Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

Disease data
Classification

Disease

Synonyms
SEMD, aggrecan type
SEMD, typ agrekan
ORPHA code
171866
OMIM code
612813
ICD10 code
Q77.7
ICD11 code
LD24.3

No additional description.

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