Subaortic stenosis-short stature syndrome

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984.



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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:0000463 Anteverted nares Very frequent (99-80%)
HP:0001608 Abnormality of the voice Very frequent (99-80%)
HP:0001682 Subvalvular aortic stenosis Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005174 Membranous subvalvular aortic stenosis Very frequent (99-80%)
HP:0008777 Abnormal vocal cord morphology Very frequent (99-80%)
HP:0011675 Arrhythmia Very frequent (99-80%)
HP:0000023 Inguinal hernia Frequent (79-30%)
HP:0001513 Obesity Frequent (79-30%)
HP:0002093 Respiratory insufficiency Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000368 Low-set, posteriorly rotated ears Occasional (29-5%)
HP:0000470 Short neck Occasional (29-5%)
HP:0000568 Microphthalmia Occasional (29-5%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0000691 Microdontia Occasional (29-5%)
HP:0001061 Acne Occasional (29-5%)
HP:0001080 Biliary tract abnormality Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0003119 Abnormal circulating lipid concentration Occasional (29-5%)
HP:0005048 Synostosis of carpal bones Occasional (29-5%)
HP:0005978 Type II diabetes mellitus Occasional (29-5%)
HP:0007598 Bilateral single transverse palmar creases 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