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Spondyloepiphyseal dysplasia, MacDermot type

MedGen UID:
401067
•Concept ID:
C1866719
•
Disease or Syndrome
Synonym: Spondyloepiphyseal dysplasia, myopia, and sensorineural deafness
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.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0008472
OMIM®: 184000
Orphanet: ORPHA163668

Definition

Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpondyloepiphyseal dysplasia, MacDermot type
Follow this link to review classifications for Spondyloepiphyseal dysplasia, MacDermot type in Orphanet.

Recent clinical studies

Etiology

Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus.
MacDermot KD, Buckley B, Van Someren V
Clin Genet 1995 Oct;48(4):217-20. doi: 10.1111/j.1399-0004.1995.tb04092.x. PMID: 8591675

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