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Spondyloepimetaphyseal dysplasia, PAPSS2 type

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Name:
Spondyloepimetaphyseal dysplasia, PAPSS2 type
Description:
Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
ORPHAcode:
93282
Synonyms:
Spondyloepimetaphyseal dysplasia, Pakistani type
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
PAPSS2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14