Mesomelic Dysplasia, Savarirayan Type

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OMIM 57 605274 Orphanet 59 ORPHA85170 ICD10 via Orphanet 34 Q78.8

UMLS via Orphanet 74 C1854470 MedGen 42 C1854470 SNOMED-CT via HPO 69 263681008 228156007 247578003 91138005 224958001 295091000119100 229844004 68284008 105985007 240190009 157265008 125617002 417558002 9634000 237836003 more

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85170Disease definitionMesomelic 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, is also known as mesomelic dysplasia with absent fibulas and triangular tibias. An important gene associated with Mesomelic Dysplasia, Savarirayan Type is ID4 (Inhibitor Of DNA Binding 4, HLH Protein). Affiliated tissues include bone, and related phenotypes are intellectual disability and skeletal dysplasia

Description from OMIM: 605274

Clinical features from OMIM:

605274

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