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Achondrogenesis type 1B

Disease Export to PDF
Name:
Achondrogenesis type 1B
Description:
A rare, lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.
ORPHAcode:
93298
Synonyms:
Achondrogenesis, Parenti-Fraccaro type
XREF(s):
Orphanet
MeSH
OMIM
ICD-10
Analyte(s):
SLC26A2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14