Léri-Weill dyschondrosteosis

A rare skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.



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Total: 0 (papers)

  


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

Phenotype(s) retrieved from Orphanet

    Total: 37

HPO ID Term Frequency
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001191 Abnormality of the carpal bones Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0001804 Hypoplastic fingernail Very frequent (99-80%)
HP:0002644 Abnormality of pelvic girdle bone morphology Very frequent (99-80%)
HP:0002818 Abnormality of the radius Very frequent (99-80%)
HP:0002823 Abnormality of femur morphology Very frequent (99-80%)
HP:0002970 Genu varum Very frequent (99-80%)
HP:0002982 Tibial bowing Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0002984 Hypoplasia of the radius Very frequent (99-80%)
HP:0002986 Radial bowing Very frequent (99-80%)
HP:0002992 Abnormality of tibia morphology Very frequent (99-80%)
HP:0002997 Abnormality of the ulna Very frequent (99-80%)
HP:0003022 Hypoplasia of the ulna Very frequent (99-80%)
HP:0003027 Mesomelia Very frequent (99-80%)
HP:0003031 Ulnar bowing Very frequent (99-80%)
HP:0003063 Abnormality of the humerus Very frequent (99-80%)
HP:0003067 Madelung deformity Very frequent (99-80%)
HP:0003272 Abnormality of the hip bone Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0005019 Diaphyseal thickening Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0005736 Short tibia Very frequent (99-80%)
HP:0005930 Abnormality of epiphysis morphology Very frequent (99-80%)
HP:0006248 Limited wrist movement Very frequent (99-80%)
HP:0006443 Patellar aplasia Very frequent (99-80%)
HP:0006459 Dorsal subluxation of ulna Very frequent (99-80%)
HP:0008873 Disproportionate short-limb short stature Very frequent (99-80%)
HP:0010579 Cone-shaped epiphysis Very frequent (99-80%)
HP:0010624 Aplastic/hypoplastic toenail Very frequent (99-80%)
HP:0100777 Exostoses Very frequent (99-80%)
HP:0002648 Abnormality of calvarial morphology Frequent (79-30%)
HP:0002857 Genu valgum Frequent (79-30%)
HP:0003042 Elbow dislocation Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SHOX short stature homeobox 6473