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Spondylocarpotarsal synostosis

Disease Export to PDF
Name:
Spondylocarpotarsal synostosis
Description:
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.
ORPHAcode:
3275
Synonyms:
Synspondylism
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
MYH3
FLNB
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14