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Spondyloepimetaphyseal dysplasia, Handigodu type

MedGen UID:: 461895
•Concept ID:: C3150545
•: Disease or Syndrome

Synonym:	Handigodu joint disease
SNOMED CT:	Spondyloepimetaphyseal dysplasia Handigodu type (763885008)

Monarch Initiative:	MONDO:0013233
OMIM®:	613343
Orphanet:	ORPHA99642

Definition

Handigodu disease is a autosomal dominant spondyloepimetaphyseal dysplasia prevalent in a few villages of 2 districts of the state of Karnataka in southern India (Agarwal et al., 1994). [from OMIM]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSpondyloepimetaphyseal dysplasia, Handigodu type

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the skeletal system
    - Abnormal skeletal morphology
      - Skeletal dysplasia
        Spondyloepiphyseal dysplasia
        Spondyloepimetaphyseal dysplasia, Handigodu type

Follow this link to review classifications for Spondyloepimetaphyseal dysplasia, Handigodu type in Orphanet.

Recent clinical studies

Etiology

The fate of the hip in spondylo-epi-metaphyseal dysplasia: clinical and radiological evaluation of adults with SEMD Handigodu type.

Siddesh ND, Shah H, Joseph B
Skeletal Radiol 2012 Aug;41(8):939-45. Epub 2011 Nov 25 doi: 10.1007/s00256-011-1327-8. PMID: 22116201

Clinical prediction guides

The fate of the hip in spondylo-epi-metaphyseal dysplasia: clinical and radiological evaluation of adults with SEMD Handigodu type.

Siddesh ND, Shah H, Joseph B
Skeletal Radiol 2012 Aug;41(8):939-45. Epub 2011 Nov 25 doi: 10.1007/s00256-011-1327-8. PMID: 22116201

Handigodu disease: a radiological study. A new variety of spondyloepi(meta)physeal dysplasia of the autosomal dominant type.

Agarwal SS, Phadke SR, Phadke RV, Das SK, Singh GK, Sharma JP, Teotia SP, Saxena BN
Skeletal Radiol 1994 Nov;23(8):611-9. PMID: 7886470

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Spondyloepimetaphyseal dysplasia, Handigodu type
Spondyloepimetaphyseal dysplasia, Handigodu type

MedGen
Abnormal spatial orientation of the cardiac segments
Abnormal spatial orientation of the cardiac segments

MedGen
Eng endoglin [Mus musculus]
Eng endoglin [Mus musculus]
Gene ID:13805

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