1. Diseases
  2. Atelosteogenesis type II

Atelosteogenesis type II

Disease Export to PDF
Name:
Atelosteogenesis type II
Description:
A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
ORPHAcode:
56304
Synonyms:
AO2
AOII
Atelosteogenesis type 2
De la Chapelle dysplasia
Neonatal osseous dysplasia type 1
XREF(s):
Orphanet
ICD-10
OMIM
MeSH
Analyte(s):
SLC26A2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14