Living with Houge-janssens syndrome 1
A rare genetic condition that affects development, speech, muscle tone, and behavior, often with a larger head.
Understanding Houge-janssens syndrome 1
It is also called intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome. People may have global developmental delay, limited or absent speech, and intellectual disability. A larger than usual head (macrocephaly) and different facial features are common. Some have seizures or are on the autism spectrum. Some also have eye, heart, bone, or brain differences. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Global developmental delay
- Limited or absent speech
- Larger than usual head (macrocephaly)
- Autistic behavior
- Curved spine (scoliosis)
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 and genetic specialists.
- 3Consider genetic testing
Changes in PPP2R5D 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)
- 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 PPP2R5D gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: autosomal dominant intellectual disability 35; intellectual developmental disorder, autosomal dominant 35; intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome; intellectual disability, autosomal dominant type 35
Patient organizations
- Simons SearchlightHouge-janssens syndrome 1 · United States
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