Living with Shashi-Pena syndrome
A genetic condition with distinctive facial features and varied effects on growth, learning, feeding, the heart and behavior.
Understanding Shashi-Pena syndrome
Facial features can include widely spaced, prominent eyes, drooping eyelids, arched eyebrows and a broad nose tip. Most babies have low muscle tone that often improves over time. Large size at birth and a large head are common. Development ranges from low-average to severe intellectual disability. Other findings can include feeding trouble, heart defects, seizures, low blood sugar, vision problems and hearing loss.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Low muscle tone (hypotonia)
- Large head (macrocephaly)
- Feeding difficulties in infancy
- Drooping upper eyelids (ptosis)
- Fever-triggered seizures
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 ASXL2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
ASXL Rare Research Endowment Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: ASXL Rare Research Endowment 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 ASXL Rare Research Endowment Foundation
- 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 lists changes in the ASXL2 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: shapns; shashi-pena syndrome; shapns
Patient organizations
- ASXL Rare Research Endowment FoundationShashi-Pena syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Shashi-Pena syndrome.
Explore research for Shashi-Pena syndrome
Explore actively recruiting Shashi-Pena syndrome studies with HealthSpark.
Find actively recruiting studies for Shashi-Pena 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Shashi-Pena syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Shashi-Pena syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Shashi-Pena syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.