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Spondyloepiphyseal dysplasia, Kimberley type(SEDK)

MedGen UID:
330777
•Concept ID:
C1842149
•
Congenital Abnormality
Synonym: Spondyloepiphyseal Dysplasia, Kimberley Type
SNOMED CT: Spondyloepiphyseal dysplasia Kimberley type (719203001)
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)
 
Gene (location): ACAN (15q26.1)
 
Monarch Initiative: MONDO:0012019
OMIM®: 608361
Orphanet: ORPHA93283

Definition

Kimberley-type spondyloepiphyseal dysplasia (SEDK) is a mild autosomal dominant SED with a phenotype of short stature, stocky build, and early-onset osteoarthritis of the weight-bearing joints (summary by Gleghorn et al., 2005). [from OMIM]

Clinical features

From HPO
Genu varum
MedGen UID:
154257
•Concept ID:
C0544755
•
Finding
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
See: Feature record | Search on this feature
Genu valgum
MedGen UID:
154364
•Concept ID:
C0576093
•
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
See: Feature record | Search on this feature
Proportionate short stature
MedGen UID:
163901
•Concept ID:
C0878660
•
Finding
A kind of short stature in which different regions of the body are shortened to a comparable extent.
See: Feature record | Search on this feature
Spondyloepiphyseal dysplasia
MedGen UID:
20916
•Concept ID:
C0038015
•
Finding
A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
See: Feature record | Search on this feature
Delayed skeletal maturation
MedGen UID:
108148
•Concept ID:
C0541764
•
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
See: Feature record | Search on this feature
Flat capital femoral epiphysis
MedGen UID:
334001
•Concept ID:
C1842155
•
Finding
An abnormal flattening of the proximal epiphysis of the femur.
See: Feature record | Search on this feature
Platyspondyly
MedGen UID:
335010
•Concept ID:
C1844704
•
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
See: Feature record | Search on this feature
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Term Hierarchy

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

Recent clinical studies

Etiology

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE
Clin Endocrinol (Oxf) 2018 Jun;88(6):820-829. Epub 2018 Mar 24 doi: 10.1111/cen.13581. PMID: 29464738
A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.
Gleghorn L, Ramesar R, Beighton P, Wallis G
Am J Hum Genet 2005 Sep;77(3):484-90. Epub 2005 Jul 22 doi: 10.1086/444401. PMID: 16080123Free PMC Article

Clinical prediction guides

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE
Clin Endocrinol (Oxf) 2018 Jun;88(6):820-829. Epub 2018 Mar 24 doi: 10.1111/cen.13581. PMID: 29464738

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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