Astley-Kendall dysplasia

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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 1 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(21.2%)		 9643294
 A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder.
Elcioglu N, Hall CM.
J Med Genet. 1998;35(6):505-7.
Lethal skeletal dysplasia
Calcinosis Chondrodysplasia Punctata Dwarfism Females Fetal Death Heterotopic Ossification Homo sapiens Infant, Newborn Osteogenesis Imperfecta
        

Phenotype(s) retrieved from Orphanet

    Total: 4

HPO ID Term Frequency
HP:0002703 Abnormality of skull ossification Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0008873 Disproportionate short-limb short stature Very frequent (99-80%)
HP:0010655 Epiphyseal stippling Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0005716 Lethal skeletal dysplasia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID