Alopecia Mental Retardation Hypogonadism

Common Name(s)

Alopecia Mental Retardation Hypogonadism

Alopecia - Mental Retardation - Hypogonadism refers to a form of intellectual disability that is characterized mainly by a complete lack of hair at birth, below-average mental ability, and problems with the reproductive organs. Hence, individuals with this form of intellectual disability may have problems with sexual activity. Like other individuals with intellectual disability, an individual with this condition often has problems with reasoning and solving problems, as well as performing day-to-day tasks. The condition is often diagnosed during childhood. Doctors diagnose this form of intellectual disability if a lack of hair at birth and reproductive organ problems are observed. Signs like walking and talking late, slow mastering of basic tasks, and having difficulty remembering things may also suggest this condition in children. Treatment is developed on a case-by-case basis and depends on the specific needs of the patient. Doctors may suggest patients to undergo hormone therapy to fix reproductive organ problems. Doctors seek help from various therapists and community services to provide support and care for families affected by intellectual disability.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alopecia Mental Retardation Hypogonadism" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alopecia Mental Retardation Hypogonadism" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Alopecia Mental Retardation Hypogonadism" returned 2 free, full-text research articles on human participants. First 3 results:

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
 

Author(s): Anas M Alazami, Amr Al-Saif, Abdulaziz Al-Semari, Saeed Bohlega, Soumaya Zlitni, Fatema Alzahrani, Prashant Bavi, Namik Kaya, Dilek Colak, Hanif Khalak, Andy Baltus, Borut Peterlin, Sumita Danda, Kailash P Bhatia, Susanne A Schneider, Nadia Sakati, Christopher A Walsh, Futwan Al-Mohanna, Brian Meyer, Fowzan S Alkuraya

Journal: Am. J. Hum. Genet.. 2008 Dec;83(6):684-91.

 

Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (also referenced as Woodhouse-Sakati syndrome) is a rare autosomal recessive multisystemic disorder. We have identified a founder mutation consisting of a single base-pair deletion in C2orf37 ...

Last Updated: 10 Dec 2008

Go To URL
A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.
 

Author(s): N J Woodhouse, N A Sakati

Journal: J. Med. Genet.. 1983 Jun;20(3):216-9.

 

A distinct and previously undescribed syndrome has been observed in six Saudi Arabian patients from two highly inbred families. The parents were normal, indicating an autosomal recessive pattern of inheritance. All the patients have a distinctive facial appearance, hypogonadism, sparse ...

Last Updated: 23 Sep 1983

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Alopecia Mental Retardation Hypogonadism" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.