Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.



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

Phenotype(s) retrieved from Orphanet

    Total: 13

HPO ID Term Frequency
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0006682 Ventricular extrasystoles Very frequent (99-80%)
HP:0006689 Bacterial endocarditis Very frequent (99-80%)
HP:0007400 Irregular hyperpigmentation Very frequent (99-80%)
HP:0007477 Abnormal dermatoglyphics Very frequent (99-80%)
HP:0009804 Reduced number of teeth Very frequent (99-80%)
HP:0012722 Heart block Very frequent (99-80%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0002750 Delayed skeletal maturation Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0007598 Bilateral single transverse palmar creases Frequent (79-30%)


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