Acrocapitofemoral dysplasia

A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.



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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: 21

HPO ID Term Frequency
HP:0002652 Skeletal dysplasia Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0002812 Coxa vara Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003367 Abnormality of the femoral neck Very frequent (99-80%)
HP:0004279 Short palm Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0010579 Cone-shaped epiphysis Very frequent (99-80%)
HP:0001792 Small nail Frequent (79-30%)
HP:0001821 Broad nail Frequent (79-30%)
HP:0002869 Flared iliac wings Frequent (79-30%)
HP:0002970 Genu varum Frequent (79-30%)
HP:0003300 Ovoid vertebral bodies Frequent (79-30%)
HP:0003307 Hyperlordosis Frequent (79-30%)
HP:0006059 Cone-shaped metacarpal epiphyses Frequent (79-30%)
HP:0000256 Macrocephaly Occasional (29-5%)
HP:0000767 Pectus excavatum Occasional (29-5%)
HP:0000768 Pectus carinatum Occasional (29-5%)
HP:0000774 Narrow chest Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0010306 Short thorax Occasional (29-5%)


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
IHH Indian hedgehog signaling molecule 3549