U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.
 
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

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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...