Achondrogenesis type 1B
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): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
|
Changed: |
22 Jun 2023 - 16:14
|