Living with Pseudoaminopterin syndrome
A rare genetic syndrome with differences in the skull, face, and limbs, mild to moderate intellectual disability, and short stature.
Understanding Pseudoaminopterin syndrome
It involves differences in the skull (including early closing of skull seams), face, and limbs, with mild to moderate intellectual disability and short stature. Facial differences can include wide-set eyes, a small lower jaw, cleft lip or high palate, and small, low-set ears. GARD lists onset during pregnancy or as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Short stature
- Wide-set eyes (hypertelorism)
- Small lower jaw (micrognathia)
- High palate
- Limb differences, such as short or joined fingers
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 gene changes cause this condition, and it is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. It doesn't name a gene yet.
Also known as: aminopterin syndrome sine aminopterin; aminopterin syndrome-like sine aminopterin; assa
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 Pseudoaminopterin syndrome.
Explore research for Pseudoaminopterin syndrome
Explore actively recruiting Pseudoaminopterin syndrome studies with HealthSpark.
Find actively recruiting studies for Pseudoaminopterin syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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