Overview
Short stature due to growth hormone qualitative anomaly is a rare endocrine condition where the body produces growth hormone (GH), but the hormone does not work properly. Unlike typical growth hormone deficiency where the body makes too little GH, in this condition the growth hormone molecule itself is abnormal or has a changed structure. This means that even though blood tests may show normal or even high levels of growth hormone, the hormone cannot do its job of stimulating growth effectively. The condition is sometimes called bioinactive growth hormone or Kowarski syndrome. Children with this condition typically show significant short stature that becomes noticeable during early childhood. Their growth rate is slower than expected, and they may fall further behind their peers over time. Other features can include delayed bone maturation and a younger-looking appearance compared to their actual age. Because standard growth hormone blood tests may come back normal, this condition can be tricky to diagnose and may be missed or confused with other causes of short stature. Treatment usually involves replacement therapy with standard recombinant growth hormone, which can bypass the problem of the faulty natural hormone. When started early, growth hormone therapy can significantly improve final adult height. Regular monitoring by a pediatric endocrinologist is essential to track growth response and adjust treatment as needed.
Also known as:
Key symptoms:
Short stature or being much shorter than expected for ageSlow growth rate during childhoodDelayed bone age (bones appear younger on X-ray than actual age)Younger-looking facial features compared to peersNormal or high growth hormone levels on blood tests despite poor growthLow levels of IGF-1 (a growth factor normally stimulated by growth hormone)Delayed puberty in some casesSmall body proportions that are otherwise normalPossible mild increase in body fatReduced muscle mass compared to peers
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
1 availableIncrelex
INCRELEX (mecasermin) injection is indicated for the treatment of growth failure in pediatric patients 2 years of age and older with growth hormone (GH) gene deletion who have developed neutralizing a…
INCRELEX (mecasermin) injection is indicated for the treatment of growth failure in pediatric patients 2 years of age and older with growth hormone (GH) gene deletion who have developed neutralizing antibodies to GH
Clinical Trials
View all trials with filters →No actively recruiting trials found for Short stature due to growth hormone qualitative anomaly at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Short stature due to growth hormone qualitative anomaly.
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
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Short stature due to growth hormone qualitative anomaly.
Community
No community posts yet. Be the first to share your experience with Short stature due to growth hormone qualitative anomaly.
Start the conversation →Latest news about Short stature due to growth hormone qualitative anomaly
No recent news articles for Short stature due to growth hormone qualitative anomaly.
Follow this condition to be notified when news becomes available.
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.How was this diagnosis confirmed, and could other causes of short stature be ruled out?,What is the expected improvement in growth with growth hormone therapy?,How long will my child need to take growth hormone injections?,What side effects should I watch for with growth hormone treatment?,How often will my child need follow-up visits and blood tests?,Should other family members be tested for this genetic condition?,Are there any newer or longer-acting growth hormone treatments available?
Common questions about Short stature due to growth hormone qualitative anomaly
What is Short stature due to growth hormone qualitative anomaly?
Short stature due to growth hormone qualitative anomaly is a rare endocrine condition where the body produces growth hormone (GH), but the hormone does not work properly. Unlike typical growth hormone deficiency where the body makes too little GH, in this condition the growth hormone molecule itself is abnormal or has a changed structure. This means that even though blood tests may show normal or even high levels of growth hormone, the hormone cannot do its job of stimulating growth effectively. The condition is sometimes called bioinactive growth hormone or Kowarski syndrome. Children with t
How is Short stature due to growth hormone qualitative anomaly inherited?
Short stature due to growth hormone qualitative anomaly follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Short stature due to growth hormone qualitative anomaly typically begin?
Typical onset of Short stature due to growth hormone qualitative anomaly is childhood. Age of onset can vary across affected individuals.