Spondylometaphyseal dysplasia, A4 type

Orpha code: 168555OMIM code: 609052

Definition

Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.

Disease data
Classification

Disease

ORPHA code
168555
OMIM code
609052
ICD10 code
Q77.8
ICD11 code
LD24.4

No additional description.

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