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Acrodysostosis

Disease Export to PDF
Name:
Acrodysostosis
Description:
An acromelic dysplasia that is characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.
ORPHAcode:
950
Synonyms:
Acrodysostosis with or without multiple hormonal resistance
Acrodysplasia
Arkless-Graham syndrome
Maroteaux-Malamut syndrome
XREF(s):
Orphanet
OMIM
OMIM
MeSH
ICD-10
Analyte(s):
PDE4D
PRKAR1A
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14