Overview
X-linked intellectual disability with isolated growth hormone deficiency is a rare genetic condition that affects both brain development and the body's ability to produce growth hormone. It is sometimes referred to by its Orphanet code ORPHA:67045. Because it is X-linked, it primarily affects males, though females who carry the gene change may sometimes show milder features. People with this condition typically have intellectual disability, meaning they may have difficulty with learning, communication, and daily problem-solving. At the same time, their bodies do not produce enough growth hormone, which leads to slower-than-normal growth and shorter stature compared to peers of the same age. These two problems — brain development challenges and growth issues — occur together because they share the same underlying genetic cause. Treatment focuses on managing symptoms rather than curing the condition. Growth hormone replacement therapy can be given by injection to help improve height and body composition. Educational support, speech therapy, and occupational therapy are important for helping individuals reach their full potential. With the right support team in place, many people with this condition can lead meaningful and fulfilling lives.
Also known as:
Key symptoms:
Intellectual disability (difficulty with learning and problem-solving)Short stature due to low growth hormoneDelayed developmental milestones such as sitting, walking, and talkingSmall head size (microcephaly) in some casesSpeech and language delaysBehavioral challengesLow muscle tone (hypotonia)Slow growth rate in childhood
Clinical phenotype terms (14)— 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 with isolated growth hormone deficiency.
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Specialists
View all specialists →No specialists are currently listed for X-linked intellectual disability with isolated growth hormone deficiency.
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 with isolated growth hormone deficiency.
Community
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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.What genetic tests should we do to confirm the diagnosis and identify the specific gene involved?,Is my child a good candidate for growth hormone therapy, and what are the risks and benefits?,What early intervention services should we start right away to support my child's development?,Are there other family members who should be tested or offered genetic counseling?,What signs of low blood sugar should I watch for, and what should I do if they happen?,What does my child's long-term outlook look like, and what level of independence might they achieve?,Are there any clinical trials or research studies we should know about?
Common questions about X-linked intellectual disability with isolated growth hormone deficiency
What is X-linked intellectual disability with isolated growth hormone deficiency?
X-linked intellectual disability with isolated growth hormone deficiency is a rare genetic condition that affects both brain development and the body's ability to produce growth hormone. It is sometimes referred to by its Orphanet code ORPHA:67045. Because it is X-linked, it primarily affects males, though females who carry the gene change may sometimes show milder features. People with this condition typically have intellectual disability, meaning they may have difficulty with learning, communication, and daily problem-solving. At the same time, their bodies do not produce enough growth horm
How is X-linked intellectual disability with isolated growth hormone deficiency inherited?
X-linked intellectual disability with isolated growth hormone deficiency 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 with isolated growth hormone deficiency typically begin?
Typical onset of X-linked intellectual disability with isolated growth hormone deficiency is infantile. Age of onset can vary across affected individuals.