Overview
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is an extremely rare genetic condition that affects multiple body systems. It combines three main features: congenital muscular dystrophy (muscle weakness present from birth), cataracts that develop during infancy (clouding of the lens of the eye), and hypogonadism (reduced function of the sex glands, leading to delayed or incomplete puberty and potential fertility problems). The muscular dystrophy component causes progressive muscle weakness and wasting, which can affect a child's ability to move, sit, stand, and walk. Babies with this condition are often described as 'floppy' at birth due to low muscle tone. The cataracts can cause significant vision problems if not treated early with surgery. Hypogonadism becomes more apparent during adolescence when puberty does not progress normally. Some affected individuals may also have intellectual disability or learning difficulties. Because this syndrome is so rare, there is no specific cure. Treatment focuses on managing each symptom individually, including physical therapy for muscle weakness, cataract surgery for vision, and hormone replacement therapy for hypogonadism. A team of specialists is needed to provide comprehensive care throughout the patient's life.
Also known as:
Key symptoms:
Muscle weakness present from birthLow muscle tone (floppiness) in infancyClouding of the eye lens (cataracts) in infancyDelayed or absent pubertyReduced function of sex glandsDifficulty with motor milestones like sitting and walkingProgressive muscle wastingJoint stiffness or contracturesVision problemsPossible intellectual disability or learning difficultiesPotential fertility problemsElevated creatine kinase levels in bloodDifficulty feeding in infancy
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 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Congenital muscular dystrophy-infantile cataract-hypogonadism 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 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome.
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Caregiver Resources
NORD Caregiver Resources
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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 current level of muscle function, and how quickly might it change over time?,When should cataract surgery be performed, and what outcomes can we expect?,At what age should we start monitoring for hypogonadism, and when would hormone therapy begin?,What respiratory monitoring should be done, and how often?,Are there any genetic tests that could help identify the exact cause and guide treatment?,What therapies (physical, occupational, speech) are recommended and how often?,Are there any clinical trials or research studies we could participate in?
Common questions about Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
What is Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome?
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is an extremely rare genetic condition that affects multiple body systems. It combines three main features: congenital muscular dystrophy (muscle weakness present from birth), cataracts that develop during infancy (clouding of the lens of the eye), and hypogonadism (reduced function of the sex glands, leading to delayed or incomplete puberty and potential fertility problems). The muscular dystrophy component causes progressive muscle weakness and wasting, which can affect a child's ability to move, sit, stand, and walk. Bab
How is Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome inherited?
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome typically begin?
Typical onset of Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is neonatal. Age of onset can vary across affected individuals.