Overview
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome is an extremely rare genetic condition that primarily affects males. It is sometimes referred to as Hamel cerebro-palato-cardiac syndrome or by other historical names depending on the specific family described. This syndrome is characterized by intellectual disability (ranging from moderate to severe), distinctive facial features (dysmorphism), and progressive shrinkage or underdevelopment of the brain (cerebral atrophy). Because the gene responsible is located on the X chromosome, boys and men are most severely affected, while carrier females may show milder or no symptoms. Key symptoms include significant delays in reaching developmental milestones such as sitting, walking, and talking. Affected individuals often have unusual facial features that may include a broad forehead, widely spaced eyes, a flat nasal bridge, and abnormalities of the ears or mouth. Brain imaging typically reveals reduced brain volume or structural abnormalities. Some patients may also experience seizures, feeding difficulties in infancy, and problems with muscle tone. There is currently no cure for this condition. Treatment is supportive and focuses on managing symptoms. This may include special education programs, speech and occupational therapy, anti-seizure medications if epilepsy is present, and nutritional support for feeding difficulties. Early intervention with developmental therapies can help maximize each child's potential. Because this syndrome is so rare, management is typically guided by a multidisciplinary team of specialists who tailor care to the individual's specific needs.
Also known as:
Key symptoms:
Intellectual disability (moderate to severe)Delayed speech and language developmentDelayed motor milestones like sitting and walkingUnusual facial featuresBrain shrinkage or underdevelopment (cerebral atrophy)Seizures or epilepsyLow muscle tone in infancyFeeding difficultiesShort stature or poor growthBehavioral challengesAbnormalities of the ears or mouthWidely spaced eyesBroad or prominent forehead
Clinical phenotype terms (23)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome.
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Rare Disease Specialist
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 intellectual disability-dysmorphism-cerebral atrophy syndrome.
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific genetic testing has been done, and do we know the exact gene involved?,How severe is the cerebral atrophy, and is it expected to progress over time?,What therapies should we start right away to help with development?,Are there any clinical trials or research studies we could participate in?,What seizure medications are recommended, and what side effects should we watch for?,Should female family members be tested to see if they are carriers?,What resources are available for long-term care planning and educational support?
Common questions about X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
What is X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome?
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome is an extremely rare genetic condition that primarily affects males. It is sometimes referred to as Hamel cerebro-palato-cardiac syndrome or by other historical names depending on the specific family described. This syndrome is characterized by intellectual disability (ranging from moderate to severe), distinctive facial features (dysmorphism), and progressive shrinkage or underdevelopment of the brain (cerebral atrophy). Because the gene responsible is located on the X chromosome, boys and men are most severely affected, w
How is X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome inherited?
X-linked intellectual disability-dysmorphism-cerebral atrophy 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 intellectual disability-dysmorphism-cerebral atrophy syndrome typically begin?
Typical onset of X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome is infantile. Age of onset can vary across affected individuals.
Which specialists treat X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome?
7 specialists and care centers treating X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.