Overview
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a very rare condition that affects brain development and several other parts of the body. It is sometimes called Temtamy syndrome or Temtamy preaxial polydactyly syndrome in older medical literature, though these names may refer to overlapping but slightly different presentations. The condition is named after its four main features: agenesis (absence or underdevelopment) of the corpus callosum, which is the band of nerve fibers connecting the two halves of the brain; intellectual disability; coloboma, which is a gap or hole in one of the structures of the eye; and micrognathia, which means a smaller-than-normal jaw. Because the corpus callosum does not form properly, signals between the two sides of the brain are disrupted, which can lead to learning difficulties, developmental delays, and problems with coordination. The eye abnormality (coloboma) can affect vision to varying degrees depending on where the gap is located. The small jaw can sometimes cause feeding and breathing difficulties, especially in newborns. Other features such as extra fingers or toes, heart defects, and distinctive facial features have also been reported in some individuals. There is currently no cure for this syndrome. Treatment focuses on managing each symptom individually. This may include early intervention programs, special education support, vision care, and surgical correction of physical abnormalities when needed. With the right support, many individuals can make meaningful developmental progress.
Also known as:
Key symptoms:
Absent or underdeveloped corpus callosum (the bridge connecting the two halves of the brain)Intellectual disability ranging from mild to severeColoboma (a gap or hole in part of the eye, such as the iris, retina, or optic nerve)Micrognathia (a smaller-than-normal lower jaw)Developmental delays in reaching milestones like sitting, walking, and talkingExtra fingers or toes (polydactyly) in some individualsDistinctive facial features such as widely spaced eyes or a broad foreheadFeeding difficulties in infancyBreathing difficulties related to the small jawVision problems due to the eye abnormalitySeizures in some individualsShort stature in some casesHeart defects in some individuals
Clinical phenotype terms (24)— 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 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Corpus callosum agenesis-intellectual disability-coloboma-micrognathia 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 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia 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
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.Which specific features of this syndrome does my child have, and how severe are they?,What genetic testing has been done, and what did the results show about the cause?,What therapies should we start right away, and how do we access them?,Are there any heart or airway problems we need to watch for urgently?,What is the risk of this happening in a future pregnancy, and should other family members be tested?,Are there any clinical trials or research studies we could participate in?,What support services or patient organizations can help our family?
Common questions about Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
What is Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome?
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a very rare condition that affects brain development and several other parts of the body. It is sometimes called Temtamy syndrome or Temtamy preaxial polydactyly syndrome in older medical literature, though these names may refer to overlapping but slightly different presentations. The condition is named after its four main features: agenesis (absence or underdevelopment) of the corpus callosum, which is the band of nerve fibers connecting the two halves of the brain; intellectual disability; coloboma, which is a
How is Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome inherited?
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome typically begin?
Typical onset of Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is neonatal. Age of onset can vary across affected individuals.