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  2. Atelosteogenesis type I

Atelosteogenesis type I

Disease Export to PDF
Name:
Atelosteogenesis type I
Description:
A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
ORPHAcode:
1190
Synonyms:
AO1
AOI
Atelosteogenesis type 1
Giant cell chondrodysplasia
Spondylo-humero-femoral dysplasia
XREF(s):
Orphanet
MeSH
OMIM
ICD-10
Analyte(s):
FLNB
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14