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Spondylometaphyseal dysplasia, Schmidt type

Disease Export to PDF
Name:
Spondylometaphyseal dysplasia, Schmidt type
Description:
Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.
ORPHAcode:
93316
Synonyms:
Spondylometaphyseal dysplasia with severe genu valgum
Spondylometaphyseal dysplasia, Algerian type
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
COL2A1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14