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Microspherophakia-metaphyseal dysplasia syndrome

MedGen UID:
322520
Concept ID:
C1834880
Disease or Syndrome
Synonyms: Dominantly inherited bone dysplasia with severe eye involvement; MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA; Verloes Van Maldergem Marneffe syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007998
OMIM®: 157151
Orphanet: ORPHA2551

Definition

Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrospherophakia-metaphyseal dysplasia syndrome
Follow this link to review classifications for Microspherophakia-metaphyseal dysplasia syndrome in Orphanet.

Recent clinical studies

Prognosis

Kumar A, Duvvari MR, Prabhakaran VC, Shetty JS, Murthy GJ, Blanton SH
Hum Genet 2010 Oct;128(4):365-71. Epub 2010 Jul 9 doi: 10.1007/s00439-010-0858-8. PMID: 20617341

Clinical prediction guides

Kumar A, Duvvari MR, Prabhakaran VC, Shetty JS, Murthy GJ, Blanton SH
Hum Genet 2010 Oct;128(4):365-71. Epub 2010 Jul 9 doi: 10.1007/s00439-010-0858-8. PMID: 20617341

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