48,XYYY syndrome

48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 29375860
(5771943)
 Rare 48, XYYY syndrome: case report and review of the literature.
Abedi M, Salmaninejad A, Sakhinia E.
Clin Case Rep. 2018;6(1):179-184.
Tall stature
        

Phenotype(s) retrieved from Orphanet

    Total: 31

HPO ID Term Frequency
HP:0000026 Male hypogonadism Very frequent (99-80%)
HP:0000027 Azoospermia Very frequent (99-80%)
HP:0000098 Tall stature Very frequent (99-80%)
HP:0000179 Thick lower lip vermilion Very frequent (99-80%)
HP:0000218 High palate Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000708 Behavioral abnormality Very frequent (99-80%)
HP:0000718 Aggressive behavior Very frequent (99-80%)
HP:0000744 Low frustration tolerance Very frequent (99-80%)
HP:0000750 Delayed speech and language development Very frequent (99-80%)
HP:0001061 Acne Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001760 Abnormality of the foot Very frequent (99-80%)
HP:0001763 Pes planus Very frequent (99-80%)
HP:0002099 Asthma Very frequent (99-80%)
HP:0002788 Recurrent upper respiratory tract infections Very frequent (99-80%)
HP:0002974 Radioulnar synostosis Very frequent (99-80%)
HP:0003083 Dislocated radial head Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0006297 Hypoplasia of dental enamel Very frequent (99-80%)
HP:0006316 Irregularly spaced teeth Very frequent (99-80%)
HP:0007477 Abnormal dermatoglyphics Very frequent (99-80%)
HP:0008193 Primary gonadal insufficiency Very frequent (99-80%)
HP:0011968 Feeding difficulties Very frequent (99-80%)
HP:0012210 Abnormal renal morphology Very frequent (99-80%)
HP:0100710 Impulsivity Very frequent (99-80%)


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