Spondylocarpotarsal synostosis

Orpha code: 3275OMIM code: 272460

Definition

A spondylodysplasic dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an shortened trunk and hence disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis and infrequently, club feet.

Disease data
Classification

Malformation syndrome

Synonyms
Synspondylism
Synspondylism
ORPHA code
3275
OMIM code
272460
ICD10 code
Q76.4
ICD11 code
LD24.5Y

No additional description.

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