Living with Macrosomia-microphthalmia-cleft palate syndrome
A very rare genetic syndrome with large size at birth, very small eyes, and a cleft palate.
Understanding Macrosomia-microphthalmia-cleft palate syndrome
Babies are larger than expected at birth (macrosomia), have very small eyes on both sides (microphthalmia), and a swollen belly with an enlarged liver. Other features include a prominent forehead, upturned nose, and a cleft in the middle of the roof of the mouth. GARD notes no further descriptions have been published since 1989.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Larger than expected size at birth
- Very small eyeballs (microphthalmia)
- Small cornea and cloudy cornea
- Cleft palate in the middle
- Enlarged liver (hepatomegaly)
- Breathing problems and repeated respiratory infections
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 ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial 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 World Craniofacial Foundation 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
Changes in genes (also called variants) cause this condition. GARD does not name a specific gene.
Also known as: macrosomia microphthalmia cleft palate; teebi al-saleh hassoon syndrome; teebi-al saleh-hassoon syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Macrosomia-microphthalmia-cleft palate syndrome.
Explore research for Macrosomia-microphthalmia-cleft palate syndrome
Explore actively recruiting Macrosomia-microphthalmia-cleft palate syndrome studies with HealthSpark.
Find actively recruiting studies for Macrosomia-microphthalmia-cleft palate 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 Macrosomia-microphthalmia-cleft palate 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 Macrosomia-microphthalmia-cleft palate 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 Macrosomia-microphthalmia-cleft palate 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.