Spondyloepimetaphyseal dysplasia, Irapa type

Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.



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

Phenotype(s) retrieved from Orphanet

    Total: 26

HPO ID Term Frequency
HP:0000768 Pectus carinatum Very frequent (99-80%)
HP:0000772 Abnormality of the ribs Very frequent (99-80%)
HP:0000926 Platyspondyly Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0001169 Broad palm Very frequent (99-80%)
HP:0001288 Gait disturbance Very frequent (99-80%)
HP:0001367 Abnormal joint morphology Very frequent (99-80%)
HP:0001376 Limitation of joint mobility Very frequent (99-80%)
HP:0001763 Pes planus Very frequent (99-80%)
HP:0001769 Broad foot Very frequent (99-80%)
HP:0002651 Spondyloepimetaphyseal dysplasia Very frequent (99-80%)
HP:0002758 Osteoarthritis Very frequent (99-80%)
HP:0002812 Coxa vara Very frequent (99-80%)
HP:0002829 Arthralgia Very frequent (99-80%)
HP:0002857 Genu valgum Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0004279 Short palm Very frequent (99-80%)
HP:0005930 Abnormality of epiphysis morphology Very frequent (99-80%)
HP:0008873 Disproportionate short-limb short stature Very frequent (99-80%)
HP:0009824 Upper limb undergrowth Very frequent (99-80%)
HP:0000939 Osteoporosis Frequent (79-30%)
HP:0008839 Hypoplastic pelvis Frequent (79-30%)
HP:0010049 Short metacarpal Frequent (79-30%)
HP:0010743 Short metatarsal Frequent (79-30%)
HP:0001191 Abnormality of the carpal bones Occasional (29-5%)
HP:0005048 Synostosis of carpal bones 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