Short stature-valvular heart disease-characteristic facies syndrome

Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.



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

Phenotype(s) retrieved from Orphanet

    Total: 14

HPO ID Term Frequency
HP:0000164 Abnormality of the dentition Very frequent (99-80%)
HP:0000218 High palate Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000678 Dental crowding Very frequent (99-80%)
HP:0001634 Mitral valve prolapse Very frequent (99-80%)
HP:0001642 Pulmonic stenosis Very frequent (99-80%)
HP:0001654 Abnormal heart valve morphology Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0003498 Disproportionate short stature Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0005692 Joint hyperflexibility Very frequent (99-80%)
HP:0100729 Large face Very frequent (99-80%)
HP:0200055 Small hand Very frequent (99-80%)
HP:0001252 Muscular hypotonia 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