Overview
Macrosomia-microphthalmia-cleft palate syndrome is a very rare condition that affects several parts of the body at the same time. It is sometimes called Froster-Iskenius syndrome or Froster syndrome. The name describes three of its main features: macrosomia (being larger than normal at birth), microphthalmia (having unusually small eyes), and cleft palate (an opening in the roof of the mouth that is present from birth). These features appear together and are noticeable from the time a baby is born. Because the eyes are smaller than normal, children with this syndrome often have significant vision problems. The cleft palate can make feeding, speaking, and breathing more difficult in early life. Being large at birth (macrosomia) may also come with other physical differences. Some children may also have intellectual disability or developmental delays, though the full range of how this condition affects each person can vary. Treatment focuses on managing each symptom individually. Surgery can help repair the cleft palate, and vision specialists can support children with eye problems. There is no cure for this syndrome, and care is provided by a team of different specialists working together to improve quality of life.
Also known as:
Key symptoms:
Larger than normal body size at birth (macrosomia)Unusually small eyes (microphthalmia)Opening in the roof of the mouth (cleft palate)Vision problems or reduced visionDifficulty feeding as a newbornSpeech and language delaysIntellectual disability or developmental delaysDistinctive facial features
Clinical phenotype terms (11)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Macrosomia-microphthalmia-cleft palate syndrome.
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Specialists
View all specialists →No specialists are currently listed for Macrosomia-microphthalmia-cleft palate syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Macrosomia-microphthalmia-cleft palate syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What genetic tests should we do to confirm the diagnosis and understand the cause?,What specialists does my child need to see, and how often?,When should cleft palate surgery be done, and what should we expect during recovery?,What vision supports are available for my child, and will their vision get worse over time?,Are there early intervention or therapy programs you recommend starting right away?,What are the chances that future children could be affected by this condition?,Are there any research studies or registries we can join to help advance understanding of this syndrome?
Common questions about Macrosomia-microphthalmia-cleft palate syndrome
What is Macrosomia-microphthalmia-cleft palate syndrome?
Macrosomia-microphthalmia-cleft palate syndrome is a very rare condition that affects several parts of the body at the same time. It is sometimes called Froster-Iskenius syndrome or Froster syndrome. The name describes three of its main features: macrosomia (being larger than normal at birth), microphthalmia (having unusually small eyes), and cleft palate (an opening in the roof of the mouth that is present from birth). These features appear together and are noticeable from the time a baby is born. Because the eyes are smaller than normal, children with this syndrome often have significant vi
How is Macrosomia-microphthalmia-cleft palate syndrome inherited?
Macrosomia-microphthalmia-cleft palate syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Macrosomia-microphthalmia-cleft palate syndrome typically begin?
Typical onset of Macrosomia-microphthalmia-cleft palate syndrome is neonatal. Age of onset can vary across affected individuals.