Supported diseases

3q29 microdeletion syndrome

3q29 microdeletion syndrome is a rare chromosome disorder. Symptoms may include delay reaching some developmental milestones such as sitting, walking or talking, frequent ear and respiratory infections, and a small head size (microcephaly). Some babies with this condition are born with a cleft lip or cleft palate, and a few have been reported to have heart defects. As children with this condition get older, they may develop behavioral difficulties such as autism, and they may have symptoms of mental illness.[1] The severity of symptoms can vary, and some people with 3q29 microdeletion syndrome may have very mild symptoms or may not even know they are affected.[2]

Dementie en verstandelijke beperking

Mensen met een verstandelijke beperking hebben een grotere kans op het krijgen van dementie. Dementie manifesteert zich ook vaak op veel jongere leeftijd dan gemiddeld het geval is. Doordat ook mensen met een verstandelijke beperking steeds ouder worden, zal dementie bij mensen met verstandelijke beperkingen vaker voorkomen. Diagnostiek en dementiezorg vragen bij deze doelgroep om specifieke expertise. Ervaringen en kennis van familieleden en naasten zijn daarbij van groot belang.

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. It occurs in an estimated 1 in 125,000-300,000 births.

Williams Syndrome

Williams Syndrome (WS) is a rare disorder, caused by a microdeletion in chromosome number 7. The lost material contains approximately 20 contiguous genes, with most notably elastin, which is the “marker gene”. WS is a non-hereditary syndrome that occurs at random and shows a wide variation in ability from person to person. It can affect brain development in varying degrees, combined with some physical effects or physical problems. These range from lack of coordination, slight muscle weakness, possible heart defects and occasional kidney damage. Development is delayed and atypical. The incidence of WS is thought to be somewhere between 1:7,500 to 1:20,000.

Angelman Syndrome

Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births. Angelman syndrome is often misdiagnosed as cerebral palsy or autism due to lack of awareness. Characteristics of the disorder include developmental delay, lack of speech, seizures, and walking and balance disorders. Individuals with Angelman syndrome will require life-long care.

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is the name for a group of developmental disorders. ASD includes a wide range, “a spectrum,” of symptoms, skills, and levels of disability. People with ASD often have these characteristics: * Ongoing social problems that include difficulty communicating and interacting with others * Repetitive behaviors as well as limited interests or activities * Symptoms that typically are recognized in the first two years of life * Symptoms that hurt the individual’s ability to function socially, at school or work, or other areas of life

Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder. Many people have never heard of it. It causes various physical, cognitive and medical challenges.

CREBBP/EP300 Exon30/31

Common health issues

There is no syndrome or disease diagnose. You can use common health practices and/or information. The Information will be valuable if there is a diagnose, but not very different as you would find for normal 'healthy' public. Although we focus on generic health problems, generic mental-development problems.

Down Syndrome

Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an 8- or 9-year-old child, but this can vary widely.

Kleefstra syndrome

Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) and a wide, short skull (brachycephaly). Distinctive facial features include eyebrows that grow together in the middle (synophrys), widely spaced eyes (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), nostrils that open to the front rather than downward (anteverted nares), a protruding jaw (prognathism), rolled out (everted) lips, and a large tongue (macroglossia). Affected individuals may have a high birth weight and childhood obesity. People with Kleefstra syndrome may also have structural brain abnormalities, congenital heart defects, genitourinary abnormalities, seizures, and a tendency to develop severe respiratory infections. During childhood they may exhibit features of autism or related developmental disorders affecting communication and social interaction. In adolescence, they may develop a general loss of interest and enthusiasm (apathy) or unresponsiveness (catatonia).

Malan syndrome

Malan syndrome is a congenital disorder named after the French geneticist Malan who described this for the first time. Characteristics of Malan syndrome are a typical face, tall stature, disturbed speech and a impaired cognition which varies in severity.

Marshall-Smith syndrome

The Marshall-Smith syndrome (MSS) is a very infrequently described syndrome. The syndrome has been described for the first time in 1971. Since then, about 50 children and adults with the syndrome are known in the medical literature worldwide.

Nicolaides–Baraitser syndrome

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Pierpont syndrome

Primrose syndrome

Pitt-Hopkins syndrome

Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder. Many people have never heard of it before. It poses different physical, cognitive and medical challenges.

Syndrome van Sturge en Weber

Sturge Weber Syndrome is a congenital condition characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and parietal lobes. The anomaly can affect both cerebral hemispheres. An ipsilateral facial cutaneous capillary vascular malformation usually affects the upper face in the V1 distribution of the trigeminal nerve. Other findings include glaucoma, buphthalmos, enlargement of the choriod plexus and seizures. Hemiparesis, hemiatrophy, hemianopia and strokelike events may occur contralateral to the cortical abnormality. Venous stasis results in ischemia underlying the leptomeningeal angiomatosis leading to calcification and laminar cortical necrosis.

SATB2 syndrome

SATB2 is a gene on chromosome 2q33.1, which was first found to be linked with cleft palate in 1999. Affected people were also noted to have learning difficulties, facial features such as a prominent nasal bridge and a small mouth and long, slender fingers. Further studies have shown that losing SATB2 is a relatively common cause of learning difficulties with or without a cleft palate. Many of the features of the children with SATB2 syndrome are similar to those in people with a chromosome 2q33.1 microdeletion which includes the SATB2 gene.

Tubereuze Sclerose Complex

Tubereuze Sclerosis Complex, ook wel de ziekte van Bourneville genoemd, is een erfelijke ziekte, die gepaard kan gaan met afwijkingen van de huid, de hersenen, de nieren en andere organen. In Nederland zijn er ongeveer 2000 patiënten met Tubereuze Sclerosis.

Wiedemann-Steiner syndrome