Overview
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a very rare genetic condition that affects multiple parts of the body, especially the eyes, brain development, and overall growth. The name describes the main features: 'colobomatous microphthalmia' means the eyes are smaller than normal and have a gap or hole in one of the eye structures (called a coloboma), 'microcephaly' means the head and brain are smaller than expected, 'intellectual disability' refers to challenges with learning and thinking, and 'short stature' means affected individuals tend to be shorter than average. This condition is sometimes referred to by its Orphanet code ORPHA:431140. Because this condition is X-linked, it is caused by a change (mutation) in a gene on the X chromosome. Males are usually more severely affected than females, since males have only one X chromosome. Females who carry the mutation may have milder features or sometimes no symptoms at all. There is currently no cure for this syndrome. Care focuses on managing each symptom — for example, supporting vision, helping with learning through special education, and monitoring growth and development. A team of specialists is usually needed to provide the best support for affected individuals and their families.
Also known as:
Key symptoms:
Smaller than normal eyes (microphthalmia)Gap or hole in part of the eye (coloboma), which can affect visionSmaller than normal head size (microcephaly)Intellectual disability — challenges with learning, memory, and problem-solvingShort stature — being shorter than most children of the same ageDelayed development of skills like sitting, walking, and talkingLow muscle tone (floppiness) in infancyPossible vision impairment or blindness depending on the eye involvementFacial features that may look different from typical
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature 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 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome.
Community
No community posts yet. Be the first to share your experience with X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome.
Start the conversation →Latest news about X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
No recent news articles for X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome.
Follow this condition to be notified when news becomes available.
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 gene or genes are thought to cause this condition, and should we pursue whole exome or whole genome sequencing?,What specialists should be part of our care team, and how often should we see each one?,What early intervention services or therapies would benefit my child the most right now?,Are there any clinical trials or research studies we could participate in?,What signs or symptoms should prompt us to seek emergency care?,What can we expect as our child grows — will their needs change significantly over time?,Are other family members at risk, and should they be tested?
Common questions about X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
What is X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome?
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a very rare genetic condition that affects multiple parts of the body, especially the eyes, brain development, and overall growth. The name describes the main features: 'colobomatous microphthalmia' means the eyes are smaller than normal and have a gap or hole in one of the eye structures (called a coloboma), 'microcephaly' means the head and brain are smaller than expected, 'intellectual disability' refers to challenges with learning and thinking, and 'short stature' means affected individuals
How is X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome inherited?
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome typically begin?
Typical onset of X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is neonatal. Age of onset can vary across affected individuals.