Thoracomelic dysplasia

Thoracomelic dysplasia is an extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 18

HPO ID Term Frequency
HP:0000311 Round face Very frequent (99-80%)
HP:0000773 Short ribs Very frequent (99-80%)
HP:0000774 Narrow chest Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0001591 Bell-shaped thorax Very frequent (99-80%)
HP:0002162 Low posterior hairline Very frequent (99-80%)
HP:0002644 Abnormality of pelvic girdle bone morphology Very frequent (99-80%)
HP:0002857 Genu valgum Very frequent (99-80%)
HP:0002991 Abnormality of fibula morphology Very frequent (99-80%)
HP:0003042 Elbow dislocation Very frequent (99-80%)
HP:0003307 Hyperlordosis Very frequent (99-80%)
HP:0005019 Diaphyseal thickening Very frequent (99-80%)
HP:0005692 Joint hyperflexibility Very frequent (99-80%)
HP:0008873 Disproportionate short-limb short stature Very frequent (99-80%)
HP:0009826 Limb undergrowth Very frequent (99-80%)
HP:0012368 Flat face Very frequent (99-80%)
HP:0000470 Short neck Occasional (29-5%)
HP:0001288 Gait disturbance Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID