Living with Renpenning syndrome
A genetic condition that almost only affects males, causing developmental delay, intellectual disability, and distinctive physical features.
Understanding Renpenning syndrome
Intellectual disability is moderate to severe. People with this condition are often short and have a small head size (microcephaly). They share certain facial features, such as a long, narrow face. About 20 percent also have other features, such as a cleft palate or heart differences. GARD lists onset as newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Growth delay and short height
- Small head size (microcephaly)
- Long, narrow face
- Small testes
- Seizures and muscle wasting (atrophy) may occur
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 PQBP1 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 rare disease patient organizations for support
- 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
Renpenning syndrome is caused by changes in the PQBP1 gene. It is X-linked, which means the gene is on the X chromosome.
Also known as: golabi-ito-hall syndrome; hamel cerebropalatocardiac syndrome; mental retardation, x-linked renpenning type; porteous syndrome; renpenning syndrome type 1; renpenning syndrome, x-linked recessive
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Renpenning syndrome.
Explore research for Renpenning syndrome
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- 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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