Multiple epiphyseal dysplasia, Lowry type

Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.



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

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000455 Broad nasal tip Very frequent (99-80%)
HP:0000582 Upslanted palpebral fissure Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0002656 Epiphyseal dysplasia Very frequent (99-80%)
HP:0002857 Genu valgum Very frequent (99-80%)
HP:0003042 Elbow dislocation Very frequent (99-80%)
HP:0003071 Flattened epiphysis Very frequent (99-80%)
HP:0008905 Rhizomelia Very frequent (99-80%)
HP:0011849 Abnormal bone ossification Very frequent (99-80%)


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