Hydrocephalus obesity hypogonadism

Other Names: Congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism

This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.

Epidemiology

It has been described in two males from one family.

Genetic counseling

X-linked recessive inheritance

An X-linked recessive mode of inheritance was suggested.

Signs and symptoms

100% of people have these symptoms Cubitus valgus(Outward turned elbows) Gynecomastia(Enlarged male breast) High, narrow palate(Narrow, high-arched roof of mouth) Hydrocephalus(Too much cerebrospinal fluid in the brain) Hypergonadotropic hypogonadism Intellectual disability, mild(Mental retardation, borderline-mild) Low posterior hairline(Low hairline at back of neck) Mitral valve prolapse Obesity(Having too much body fat) Short 4th metacarpal(Shortened 4th long bone of hand) Short neck(Decreased length of neck) Short stature(Decreased body height)

30%-79% of people have these symptoms Abnormality of the hypothalamus-pituitary axis Absent facial hair Azoospermia(Absent sperm in semen) Sparse facial hair

NIH genetic and rare disease info

• NIH info on Hydrocephalus obesity hypogonadism

Hydrocephalus obesity hypogonadism is a rare disease.

Hydrocephalus obesity hypogonadism Resources
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