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Astley-Kendall dysplasia

MedGen UID:
224886
•Concept ID:
C1300228
•
Disease or Syndrome
Synonyms: Astley-Kendall syndrome; Short limbed dwarfism with extensive stippling
SNOMED CT: Astley-Kendall dysplasia (389263004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019408
Orphanet: ORPHA85175

Definition

A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAstley-Kendall dysplasia

Recent clinical studies

Diagnosis

A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.
Gregersen PA, McKay V, Walsh M, Brown E, McGillivray G, Savarirayan R
Mol Genet Genomic Med 2020 Jun;8(6):e1173. Epub 2020 Apr 18 doi: 10.1002/mgg3.1173. PMID: 32304187Free PMC Article

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