Living with Houge-Janssens syndrome 2
A rare genetic condition with developmental delay, speech difficulty, low muscle tone, and brain differences.
Understanding Houge-Janssens syndrome 2
It is also called microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome. People may have limited or absent speech and low muscle tone. The corpus callosum, which links the two halves of the brain, may be small or missing. Facial features may differ, and some people have a small head, seizures, balance problems, scoliosis, or fused fingers. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Limited or absent speech
- Low muscle tone (hypotonia)
- Small or missing corpus callosum
- Seizures
- 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 PPP2R1A 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 PPP2R1A 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 36; intellectual developmental disorder, autosomal dominant 36; intellectual disability, autosomal dominant type 36; microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome; microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
Patient organizations
- Simons SearchlightHouge-Janssens syndrome 2 · United States
You are more than your diagnosis
Perspectives from people navigating life with Houge-Janssens syndrome 2.
Explore research for Houge-Janssens syndrome 2
Explore actively recruiting Houge-Janssens syndrome 2 studies with HealthSpark.
Find actively recruiting studies for Houge-Janssens syndrome 2 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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