Chung-Jansen syndrome is a rare disorder- also called PHIP-related disorder. The syndrome is caused by a heterozygous mutation along the PHIP gene (6q14.1). Individuals with this disorder typically have developmental delay, behavioral problems, and are at risk for obesity. At present, the syndrome has been diagnosed in about 400 people worldwide. This number, however, is growing rapidly.
Young children often have feeding difficulties and delayed developmental milestones like rolling, crawling, standing straight and walking. Speech and fine motor skills are often delayed as well.
Just as in any gene disorder, the features and severity of problems can differ greatly between individuals with Chung-Jansen syndrome.
Psychological Development and Behavioral Disorders
Behavioral problems are a striking and profound characteristic of the Chung-Jansen syndrome that children and adults have to deal with. This concerns rebellious and sometimes even (verbally) aggressive behavior that may be related to a developmental or behavioral disorder and / or learning delay.
ADHD / ADD
ODD / CD
Sensory Processing Disorder
DCD / Dyspraxia
Children sometimes seem lazy and stubborn, but frustration about not being able to perform a certain task often lies behind this behavior.
There often is a gap between verbal and performal skills. Individuals with the syndrome are verbally well developed. Because of this gap, the capabilities of children and adults are often overestimated which can increase fatigue and behavioral problems.
People with Chung-Jansen syndrome often have recognizable facial features, also called dysmorphic features.
- Eyebrows (almost) fused together (synophris);
- Full eyebrows;
- Crease at the eyes (epicanthal folds);
- Upturned nose;
- Large ears and fleshy ear lobes;
- Fusion of the skin between the second and third toe (cutaneous syndactyly);
- A curved little finger (clinodactyly);
- Tapered fingers;
- Light brown spots on the skin (cafe au lait spot).
Although physical problems do not predominate in this syndrome, there can be impactful limitations.