Overview
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome is an extremely rare genetic condition that affects multiple body systems from birth. The name describes its main features: intellectual disability (difficulty with learning and thinking), hypotonia (low muscle tone, meaning muscles feel floppy), brachycephaly (a head shape that is shorter and wider than usual), pyloric stenosis (a narrowing of the opening between the stomach and small intestine that blocks food from passing through), and cryptorchidism (undescended testicles in males). Children born with this syndrome typically show signs from the newborn period, including feeding difficulties related to pyloric stenosis and noticeable low muscle tone. Developmental milestones such as sitting, walking, and talking are usually delayed. The intellectual disability can range in severity. Because this is such a rare condition, the treatment approach focuses on managing each symptom individually. Surgery is often needed to correct pyloric stenosis, and surgical correction may also be recommended for undescended testicles. Physical therapy, occupational therapy, and speech therapy are important parts of ongoing care to help children reach their developmental potential. There is currently no cure, and management is supportive and tailored to each child's specific needs.
Key symptoms:
Intellectual disability or learning difficultiesLow muscle tone (floppy muscles)Flat or wide head shape (brachycephaly)Narrowing of the stomach outlet (pyloric stenosis)Undescended testicles in boysFeeding difficulties in infancyProjectile vomiting in newborns due to pyloric stenosisDelayed motor milestones such as sitting and walkingDelayed speech and language developmentDistinctive facial featuresPoor weight gain or failure to thrive
Clinical phenotype terms (14)— 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 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism 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 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism 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 is the severity of my child's intellectual disability, and what developmental outcomes can we expect?,When should surgery for pyloric stenosis and/or undescended testicles be scheduled?,What early intervention therapies should we start, and how often?,Is genetic testing recommended for our family, and what would the results mean?,Are there any additional medical complications we should watch for?,What educational support services are available for my child?,How often should my child see each specialist for follow-up?
Common questions about Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
What is Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome?
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome is an extremely rare genetic condition that affects multiple body systems from birth. The name describes its main features: intellectual disability (difficulty with learning and thinking), hypotonia (low muscle tone, meaning muscles feel floppy), brachycephaly (a head shape that is shorter and wider than usual), pyloric stenosis (a narrowing of the opening between the stomach and small intestine that blocks food from passing through), and cryptorchidism (undescended testicles in males). Children born with
How is Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome inherited?
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome typically begin?
Typical onset of Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome is neonatal. Age of onset can vary across affected individuals.