Spondylometaphyseal dysplasia, A4 type

Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.



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: 8

HPO ID Term Frequency
HP:0000926 Platyspondyly Very frequent (99-80%)
HP:0002657 Spondylometaphyseal dysplasia Very frequent (99-80%)
HP:0002812 Coxa vara Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0004279 Short palm Frequent (79-30%)
HP:0001376 Limitation of joint mobility Occasional (29-5%)
HP:0006603 Flared, irregular rib ends 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