Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

Orpha code: 166277OMIM code: 604922

Definicja

A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Suarez-Stickler syndrome
Dysplazja szkieletowa z kostkami Worma - wielokrotne złamania-nieprawidłowości zębiny
Kod ORPHA
166277
Kod OMIM
604922
Kod ICD10
Q78.8
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl