Presentation
Entire Body System
- Disability
Enlarged male breast 0000771 High, narrow palate Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth [ more ] 0002705 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Hypergonadotropic hypogonadism 0000815 Intellectual disability [rarediseases.info.nih.gov]
- Short Stature
4th metacarpal Shortened 4th long bone of hand 0010044 Short neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Abnormality of the hypothalamus-pituitary axis [rarediseases.info.nih.gov]
Cardiovascular
- Mitral Valve Prolapse
valve prolapse 0001634 Obesity Having too much body fat 0001513 Short 4th metacarpal Shortened 4th long bone of hand 0010044 Short neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 30%-79% of people [rarediseases.info.nih.gov]
Eyes
- Prolapse
Hypergonadotropic hypogonadism 0000815 Intellectual disability, mild Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ] 0001256 Low posterior hairline Low hairline at back of neck 0002162 Mitral valve prolapse [rarediseases.info.nih.gov]
Musculoskeletal
- Decrease in Height
[…] length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Abnormality of the hypothalamus-pituitary axis 0000864 Absent facial hair 0002550 Azoospermia Absent sperm in semen 0000027 [rarediseases.info.nih.gov]
Face, Head & Neck
- Short Neck
0002162 Mitral valve prolapse 0001634 Obesity Having too much body fat 0001513 Short 4th metacarpal Shortened 4th long bone of hand 0010044 Short neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 [rarediseases.info.nih.gov]
Psychiatrical
- Suggestibility
Genetic counseling An X-linked recessive mode of inheritance was suggested. Last updated: 5/1/2009 Symptoms Symptoms This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. [rarediseases.info.nih.gov]
Prognosis
PATOLOGIA NEOPLASTICA min. max. fisso 9322 NEOPLASIE A PROGNOSI FAVOREVOLE CON MODESTA COMPROMISSIONE FUNZIONALE / / 11 9323 NEOPLASIE A PROGNOSI FAVOREVOLE CON GRAVE COMPROMISSIONE FUNZIONALE / / 70 9325 NEOPLASIE A PROGNOSI INFAUSTA O PROBABILMENTE [medisoc.it]
Epidemiology
Epidemiology It has been described in two males from one family. Genetic counseling An X-linked recessive mode of inheritance was suggested. Last updated: 5/1/2009 Symptoms Symptoms This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]