MCID: MSM019
MIFTS: 21
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Mesomelic Dysplasia, Savarirayan Type
Categories:
Bone diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Mesomelic Dysplasia, Savarirayan Type:
Characteristics:Orphanet epidemiological data:58
mesomelic dysplasia, savarirayan type
Inheritance: Not applicable; Age of onset: Infancy,Neonatal; HPO:31Classifications:
ICD10:
33
Orphanet: 58
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85170DefinitionMesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.Visit the Orphanet disease page for more resources.
MalaCards based summary : Mesomelic Dysplasia, Savarirayan Type, also known as mesomelic dysplasia with absent fibulas and triangular tibias, is related to alacrima, achalasia, and mental retardation syndrome and mesomelia. An important gene associated with Mesomelic Dysplasia, Savarirayan Type is ID4 (Inhibitor Of DNA Binding 4, HLH Protein). Related phenotypes are skeletal dysplasia and bowing of the long bones
More information from OMIM:
605274
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Diseases related to Mesomelic Dysplasia, Savarirayan Type via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Mesomelic Dysplasia, Savarirayan Type:58 31 (show all 22)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:605274 (Updated 05-Mar-2021) |
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Articles related to Mesomelic Dysplasia, Savarirayan Type:
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