Living with 4p partial monosomy syndrome
A condition, also called Wolf-Hirschhorn syndrome, that affects growth, development, and facial features, and often brings seizures.
Understanding 4p partial monosomy syndrome
Main features include distinctive facial features, delayed growth and development, intellectual disability, and seizures. Almost everyone has a face often described as 'Greek warrior helmet' in look. Slow growth starts before birth, and infants may have feeding problems and low muscle tone. Intellectual disability ranges from mild to severe. Seizures may be hard to treat but tend to disappear with age. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Seizures
- Hole between upper heart chambers (ASD)
- Kidney differences
- Scalp skin defect (aplasia cutis)
- Balance and coordination problems (ataxia)
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, digestive system specialists, ear, nose, and throat specialists and eye disease specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 4p- Support Group and other patient organizations
- 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
GARD says changes in genes (also called variants) cause this condition. It results from a missing piece of chromosome 4.
Also known as: 4p deletion syndrome; 4p minus syndrome; 4p- syndrome; chromosome 4 short arm deletion syndrome; chromosome 4p16.3 deletion syndrome; deletion of short arm of chromosome 4
Patient organizations
- 4p- Support Group4p partial monosomy syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with 4p partial monosomy syndrome.
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