Living with 5p partial monosomy syndrome
A chromosome condition, also called cri-du-chat syndrome, with a high-pitched cry in infancy, delayed development, and distinct facial features.
Understanding 5p partial monosomy syndrome
Babies often have a high-pitched cry that sounds like a cat. It brings intellectual disability and delayed development, a small head, low birth weight, and low muscle tone in infancy. Features include widely set eyes, low-set ears, a small jaw, and a rounded face. Some children are born with a heart defect. GARD lists onset as during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- High-pitched, cat-like cry
- Severe global developmental delay
- Small head size (microcephaly)
- Low muscle tone (hypotonia)
- Short stature
- 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 eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); 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 5p- Society 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 when a piece of chromosome 5 is missing.
Also known as: 5p deletion syndrome; 5p minus syndrome; 5p- syndrome; cat cry syndrome; cat-cry syndrome; chromosome 5 short arm deletion syndrome
Patient organizations
- 5p- Society5p partial monosomy syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with 5p partial monosomy syndrome.
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