Overview
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is an extremely rare genetic condition that primarily affects males. As the name describes, this syndrome involves several key features: microcephaly (a smaller-than-expected head size), growth retardation (slower growth leading to short stature), prognathism (a protruding or prominent jaw), and cryptorchidism (undescended testicles in boys). Because the condition is linked to the X chromosome, it mainly affects males, while females who carry the gene change may show milder or no symptoms. Children with this syndrome typically show signs from birth or early infancy. In addition to the main features, affected individuals may experience intellectual disability or developmental delays, which can range from mild to more significant. Facial features may appear distinctive, and overall physical development tends to be slower than in unaffected peers. There is currently no cure for this condition. Treatment is supportive and focuses on managing individual symptoms. This may include growth hormone evaluation, surgical correction of undescended testicles, developmental therapies such as speech and occupational therapy, and regular monitoring of head growth and neurological development. A team of specialists typically works together to provide the best care for affected individuals.
Key symptoms:
Smaller than normal head size (microcephaly)Short stature or slow growthProtruding or prominent lower jawUndescended testicles in boysIntellectual disability or learning difficultiesDelayed developmental milestonesDistinctive facial featuresLow birth weightSpeech and language delaysMotor skill delays
Clinical phenotype terms (25)— hover any for plain English
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 microcephaly-growth retardation-prognathism-cryptorchidism syndrome.
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Specialists
View all specialists →No specialists are currently listed for X-linked microcephaly-growth retardation-prognathism-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 X-linked microcephaly-growth retardation-prognathism-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 specific genetic testing should be done to confirm the diagnosis?,When should surgery for undescended testicles be scheduled?,What early intervention therapies do you recommend for my child?,Should my child be evaluated for growth hormone deficiency?,Are there any brain imaging studies that should be done?,What should I watch for that would require urgent medical attention?,Should other family members be tested as carriers of this condition?
Common questions about X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
What is X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome?
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is an extremely rare genetic condition that primarily affects males. As the name describes, this syndrome involves several key features: microcephaly (a smaller-than-expected head size), growth retardation (slower growth leading to short stature), prognathism (a protruding or prominent jaw), and cryptorchidism (undescended testicles in boys). Because the condition is linked to the X chromosome, it mainly affects males, while females who carry the gene change may show milder or no symptoms. Children with this syndrome
How is X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome inherited?
X-linked microcephaly-growth retardation-prognathism-cryptorchidism 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 microcephaly-growth retardation-prognathism-cryptorchidism syndrome typically begin?
Typical onset of X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is neonatal. Age of onset can vary across affected individuals.