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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): Gene(s) directly associated with this condition or phenotype.	ACAN (15q26.1)

Monarch Initiative:	MONDO:0012019
OMIM®:	608361
Orphanet:	ORPHA93283

Definition

Disease with characteristics of short stature and premature degenerative arthropathy. It has been described in one multigenerational South African family of English white descent. The main clinical features may include proportionate short stature (less than fifth percentile for age), stocky habitus and early-onset progressive osteoarthropathy of the weight-bearing joints. Radiographic features are flattened vertebral bodies with sclerosis and prominent endplate irregularity and flattened femoral epiphyses. Caused by mutation in the aggrecan gene (AGC1, locus 15q26.1) and transmitted as an autosomal dominant trait. [from SNOMEDCT_US]

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.

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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.

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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.

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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).

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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.

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Flat capital femoral epiphysis

MedGen UID:: 334001
•Concept ID:: C1842155
•: Finding

An abnormal flattening of the proximal epiphysis of the femur.

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Platyspondyly

MedGen UID:: 335010
•Concept ID:: C1844704
•: Finding

A flattened vertebral body shape with reduced distance between the vertebral endplates.

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Abnormality of limbs
- Genu valgum
- Genu varum
Abnormality of the musculoskeletal system
Growth abnormality
- Proportionate short stature

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSpondyloepiphyseal dysplasia, Kimberley type

Aggrecan-related bone disorder
- Spondyloepiphyseal 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: 16080123 Free PMC Article

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Clinical prediction guides

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

See all (1)

MedGen

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Spondyloepiphyseal dysplasia, Kimberley type(SEDK)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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