CHST3-related skeletal dysplasia

CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.



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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: 26

HPO ID Term Frequency
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001371 Flexion contracture Very frequent (99-80%)
HP:0001552 Barrel-shaped chest Very frequent (99-80%)
HP:0002515 Waddling gait Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0002829 Arthralgia Very frequent (99-80%)
HP:0002857 Genu valgum Very frequent (99-80%)
HP:0002945 Intervertebral space narrowing Very frequent (99-80%)
HP:0002967 Cubitus valgus Very frequent (99-80%)
HP:0003037 Enlarged joints Very frequent (99-80%)
HP:0003312 Abnormal form of the vertebral bodies Very frequent (99-80%)
HP:0003521 Disproportionate short-trunk short stature Very frequent (99-80%)
HP:0008905 Rhizomelia Very frequent (99-80%)
HP:0009811 Abnormality of the elbow Very frequent (99-80%)
HP:0010582 Irregular epiphyses Very frequent (99-80%)
HP:0010585 Small epiphyses Very frequent (99-80%)
HP:0045075 Sparse eyebrow Very frequent (99-80%)
HP:0000337 Broad forehead Frequent (79-30%)
HP:0000343 Long philtrum Frequent (79-30%)
HP:0000684 Delayed eruption of teeth Frequent (79-30%)
HP:0001270 Motor delay Frequent (79-30%)
HP:0002553 Highly arched eyebrow Frequent (79-30%)
HP:0002751 Kyphoscoliosis Frequent (79-30%)
HP:0010049 Short metacarpal Frequent (79-30%)
HP:0030680 Abnormality of cardiovascular system morphology Frequent (79-30%)


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
CHST3 carbohydrate sulfotransferase 3 9469