Living with Laryngeal abductor paralysis with intellectual disability syndrome
A rare X-linked condition with vocal cord paralysis from birth that causes noisy breathing, along with intellectual disability in males.
Understanding Laryngeal abductor paralysis with intellectual disability syndrome
Vocal cord paralysis causes severe noisy breathing (laryngeal stridor) in infants. Intellectual disability occurs in males. Other features can include a weak cry, cough, bluish skin, feeding trouble, aspiration, and bronchiectasis. A small head, tone problems, and vision or hearing problems may also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Noisy breathing from birth (laryngeal stridor)
- Vocal cord paralysis
- Moderate intellectual disability
- Delayed motor skills
- Small head (microcephaly)
- Widened airways in the lungs (bronchiectasis)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
GARD says changes in genes (also called variants) cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: laryngeal abductor paralysis-intellectual disability syndrome; plott syndrome
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 Laryngeal abductor paralysis with intellectual disability syndrome.
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