- Source: CHAMP1-associated intellectual disability syndrome
CHAMP1-associated intellectual disability syndrome, also known as autosomal dominant intellectual disability type 40, is a rare genetic disorder characterized by intellectual disabilities, developmental delays, facial dysmorphisms, and other anomalies.
Signs and symptoms
Individuals with the disorder often show the following signs and symptoms:
Intellectual disabilities
Speech delays
Epicanthic fold
Drooping of the lower lip
Feeding difficulties
Hypotonia of the face
Ataxia
Hyperopia
High palate
Widespread developmental delays
Gastroesophageal reflux
Widespread hypotonia
Decreased sense of pain
Joint hypermobility
Long face
Constantly open mouth
Prognathism (pointy chin)
High occurrence of respiratory tract infections
Short philtrum
Stereotypy
Tented upper lip vermilion
Upslanted palpebral fissures
Strabismus
Autism/autistic-like behaviour
Causes
As its name suggests, the condition is caused by mutations in the CHAMP1 gene, in chromosome 13q34. These mutations are most often missense or nonsense mutations. They are usually sporadic, meaning the condition is not inherited from the parents. However, if people with the disorder were to reproduce, they would have a 1 in 2 chance of giving their children a copy of the gene, because the disorder is autosomal dominant, which means that only one copy of a mutated gene (whether inherited or from a spontaneous error in cell division) is needed to pass it on to a child.
Epidemiology
According to OMIM, only 36 cases have been described in medical literature.
Worldwide there are only around 170 known cases as confirmed by the CHAMP1 non-profits CHAMP1 UK & The CHAMP1 Research Foundation.
Support for those affected
There are 2 main charities/non-profits offering support for those affected by CHAMP1:
CHAMP1 UK &
The CHAMP1 Research Foundation