Living with PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
A rare genetic condition with developmental delay, behavior challenges, weight gain, and distinct facial features.
Understanding PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
People have developmental delay of varying degree, intellectual disability, overweight or obesity, and behavior differences such as hyperactivity, anxiety, or autistic features. Certain facial features are also seen. Low muscle tone, eye differences, and finger or toe differences can occur. Signs begin during pregnancy, at birth, and in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delays in development
- Weight gain (overweight or obesity)
- Attention problems and impulsivity
- Low muscle tone (hypotonia)
- Farsightedness
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in PHIP are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Simons Searchlight
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PHIP gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: chung jansen syndrome; chung-jansen syndrome; developmental delay, intellectual disability, obesity, and dysmorphic features; developmental delay, intellectual disability, obesity, and dysmorphism; phip-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome; pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome
Patient organizations
- Simons SearchlightPHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome.
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