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MCID: ULN007
MIFTS: 17
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Ulna Metaphyseal Dysplasia Syndrome
Categories:
Bone diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Ulna Metaphyseal Dysplasia Syndrome:
Characteristics:HPO:31Classifications:
ICD10:
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1837 Definition Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. Visit the Orphanet disease page for more resources.
MalaCards based summary : Ulna Metaphyseal Dysplasia Syndrome, is also known as hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna. Affiliated tissues include bone, and related phenotypes are delayed skeletal maturation and abnormality of the ulna
More information from OMIM:
191420
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Human phenotypes related to Ulna Metaphyseal Dysplasia Syndrome:58 31 (show all 19)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:191420 |
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MalaCards organs/tissues related to Ulna Metaphyseal Dysplasia Syndrome:40
Bone
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Articles related to Ulna Metaphyseal Dysplasia Syndrome:
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Search
GEO
for disease gene expression data for Ulna Metaphyseal Dysplasia Syndrome.
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