Rhizomelic dysplasia, Patterson-Lowry type

Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 17

HPO ID Term Frequency
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000303 Mandibular prognathia Very frequent (99-80%)
HP:0000445 Wide nose Very frequent (99-80%)
HP:0000457 Depressed nasal ridge Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0002812 Coxa vara Very frequent (99-80%)
HP:0002857 Genu valgum Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0003307 Hyperlordosis Very frequent (99-80%)
HP:0003312 Abnormal form of the vertebral bodies Very frequent (99-80%)
HP:0004097 Deviation of finger Very frequent (99-80%)
HP:0005687 Deformed humeral heads Very frequent (99-80%)
HP:0005792 Short humerus Very frequent (99-80%)
HP:0008905 Rhizomelia Very frequent (99-80%)
HP:0010049 Short metacarpal Very frequent (99-80%)
HP:0012368 Flat face Very frequent (99-80%)
HP:0100729 Large face 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