Autosomal recessive brachyolmia

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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