49, XXXYY syndrome
The condition is extremely rare with only a handful of cases reported in the medical literature.
49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg.
Signs and symptoms
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Abnormal facial shape(Unusual facial appearance)
- Abnormal plantar dermatoglyphics(Abnormal prints on feet)
- Abnormality of the cerebral white matter
- Ambiguous genitalia(Ambiguous external genitalia)
- Autistic behavior
- Bilateral talipes equinovarus(Club foot on both sides)
- Decreased serum testosterone level(Decreased serum testosterone levels)
- Decreased testicular size(Small testes)
- Delayed skeletal maturation(Delayed bone maturation)
- Delayed speech and language development(Deficiency of speech development)
- Epicanthus(Eye folds)
- Eunuchoid habitus
- Finger clinodactyly
- Gynecomastia(Enlarged male breast)
- Hypertelorism(Wide-set eyes)
- Increased circulating gonadotropin level(Elevated gonadotropins)
- Intellectual disability(Mental deficiency)
- Low frustration tolerance
- Low-set, posteriorly rotated ears
- Male hypogonadism(Decreased function of male gonad)
- Mandibular prognathia(Big lower jaw)
- Micrognathia(Little lower jaw)
- Micropenis(Short penis)
- Moderate global developmental delay
- Narrow chest(Low chest circumference)
- Primary gonadal insufficiency
- Prominent forehead(Pronounced forehead)
- Recurrent upper respiratory tract infections(Recurrent colds)
- Wide nasal bridge(Broad nasal bridge)
Several types of genetic tests can identify chromosome disorders:
Treatment is based on the signs and symptoms present in each person.
NIH genetic and rare disease info
49, XXXYY syndrome is a rare disease.