49,XXXYY syndrome

49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (incl. solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated.



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

Phenotype(s) retrieved from Orphanet

    Total: 34

HPO ID Term Frequency
HP:0000026 Male hypogonadism Very frequent (99-80%)
HP:0000054 Micropenis Very frequent (99-80%)
HP:0000062 Ambiguous genitalia Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000303 Mandibular prognathia Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000708 Behavioral abnormality Very frequent (99-80%)
HP:0000729 Autistic 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:0000771 Gynecomastia Very frequent (99-80%)
HP:0000774 Narrow chest Very frequent (99-80%)
HP:0000837 Increased circulating gonadotropin level Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001776 Bilateral talipes equinovarus Very frequent (99-80%)
HP:0001999 Abnormal facial shape Very frequent (99-80%)
HP:0002119 Ventriculomegaly Very frequent (99-80%)
HP:0002500 Abnormality of the cerebral white matter Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0002788 Recurrent upper respiratory tract infections Very frequent (99-80%)
HP:0003241 External genital hypoplasia Very frequent (99-80%)
HP:0003782 Eunuchoid habitus Very frequent (99-80%)
HP:0008193 Primary gonadal insufficiency Very frequent (99-80%)
HP:0008734 Decreased testicular size Very frequent (99-80%)
HP:0010506 Abnormal plantar dermatoglyphics Very frequent (99-80%)
HP:0011220 Prominent forehead Very frequent (99-80%)
HP:0011343 Moderate global developmental delay Very frequent (99-80%)
HP:0040019 Finger clinodactyly Very frequent (99-80%)
HP:0040171 Decreased serum testosterone level Very frequent (99-80%)
HP:0045058 Abnormality of the testis size 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