Mesomelic dwarfism, Reinhardt-Pfeiffer type

A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.



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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: 13

HPO ID Term Frequency
HP:0002983 Micromelia 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:0003038 Fibular hypoplasia Very frequent (99-80%)
HP:0003042 Elbow dislocation Very frequent (99-80%)
HP:0003048 Radial head subluxation Very frequent (99-80%)
HP:0003498 Disproportionate short stature Very frequent (99-80%)
HP:0009465 Ulnar deviation of finger Very frequent (99-80%)
HP:0010781 Skin dimple Very frequent (99-80%)
HP:0005048 Synostosis of carpal bones Frequent (79-30%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000545 Myopia 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