Select a specific condition below to view its details.
- Fragile x syndrome
Fragile X syndrome is characterized by moderate intellectual disability in affected males and mild intellectual disability in affected females. Distinctive physical features are sometimes present in affected males including a large head, long face, prominent forehead and chin, protruding ears, loose joints and large testes, but these features develop over time and may not be obvious until puberty. Motor and language delays are usually present Read More
- Hirschsprung disease-mental retardation syndrome
Mowat-Wilson syndrome (MWS) is a rare genetic disorder that may be apparent at birth or later in childhood. MWS is characterized by intellectual disability, distinctive facial features and seizures. Other congenital anomalies occur in some individuals and can include a gastrointestinal disease known as Hirschsprung disease (40-50% of individuals) in which a narrowing of a portion of the colon is present, heart (cardiac) defects, kidney (renal) Read More
- Lysosomal alpha-d-mannosidase deficiency
Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3). The symptoms and severity of the disorder are highly variable. Sympt Read More
- Wagr syndrome
WAGR syndrome/11p deletion syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability. "WAGR" is an acronym for the characteristic abnormalities associated with the syndrome. The acronym stands for (W)ilms' Tumor, the most common form of kidney cancer in children; (A)niridia, partial or complete absence of the colore Read More
- X-linked mental retardation with hypoton...
X-linked mental retardation with hypotonia is a condition characterized by mild to moderate intellectual disability that affects only males. 1. Treatment strategy involves rehabilitation of the child and making him acquire adaptive skills for everyday life. Special schools provide individualized education to these children, so that they are able to acquire knowledge at their own pace. 2. Apart from academic Read More
- X-linked mental retardation-clasped thum...
X-linked mental retardation-clasped thumbs is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed. 1. There is no medical treatment for intellectual impairment since it is not a disease condition. 2. Treatment strategy involves rehabilitation of the child an Read More