Spondylocarpotarsal synostosis

Orpha code: 3275OMIM code: 272460

Definicja

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
Klasyfikacja

Malformation syndrome

Synonimy
Synspondylism
Synspondylism
Kod ORPHA
3275
Kod OMIM
272460
Kod ICD10
Q76.4
Kod ICD11
LD24.5Y

No additional description.

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