Autosomal recessive brachyolmia
Name: |
Autosomal recessive brachyolmia
|
Description: |
Brachyolmia, recessive type is a form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.
|
ORPHAcode: |
448242
|
Synonyms: |
Brachyolmia, Hobaek/Toledo type
|
XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
|
Changed: |
22 Jun 2023 - 16:14
|