Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Malformation syndrome Synonyms Brachyolmia, Hobaek/Toledo type Autosomalna recesywna brachyolmia, typ Hobaek/Toledo ORPHA code 448242 OMIM code 271630 ICD10 code Q76.3 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl