Overview
Absent thumb-short stature-immunodeficiency syndrome is an extremely rare genetic condition that combines several features affecting different parts of the body. The hallmark signs include missing or underdeveloped thumbs (absent thumbs), shorter-than-expected height (short stature), and a weakened immune system (immunodeficiency). Because the immune system does not work properly, affected individuals are more prone to frequent and sometimes severe infections, which can begin in infancy or early childhood. The condition falls under a group of disorders known as combined immunodeficiency syndromes with associated features. The skeletal abnormalities, particularly the absent thumbs, are often noticeable at birth and can affect hand function and grip. Short stature may become more apparent as the child grows. Some patients may also have other skeletal or developmental differences. Because this syndrome is so rare, there is no single established treatment protocol. Management typically involves a team of specialists who address each aspect of the condition separately. Immune deficiency may be treated with immunoglobulin replacement therapy, prophylactic antibiotics, or in some cases bone marrow transplantation. Surgical reconstruction or prosthetics may be considered for the absent thumbs. Growth hormone therapy might be explored for short stature, depending on the underlying cause. Early diagnosis and coordinated care are essential to improving quality of life and reducing the risk of serious infections.
Key symptoms:
Missing or absent thumbs on one or both handsShort stature or growth failureWeakened immune system leading to frequent infectionsRecurrent respiratory infectionsRecurrent skin infectionsDelayed growth in childhoodDifficulty gripping or holding objects due to absent thumbsPossible other skeletal abnormalitiesLow levels of immune cells or antibodiesFailure to thrive in infancy
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 Absent thumb-short stature-immunodeficiency syndrome.
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Specialists
View all specialists →No specialists are currently listed for Absent thumb-short stature-immunodeficiency 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 Absent thumb-short stature-immunodeficiency 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.How severe is my child's immune deficiency, and what infections should I watch for?,Would immunoglobulin replacement therapy be helpful, and how is it given?,Is bone marrow transplantation an option for my child's immune problems?,What surgical options are available to improve hand function?,Should my child be evaluated for growth hormone therapy?,Are there genetic tests that can help identify the exact cause of this condition?,What precautions should we take at school or daycare to reduce infection risk?
Common questions about Absent thumb-short stature-immunodeficiency syndrome
What is Absent thumb-short stature-immunodeficiency syndrome?
Absent thumb-short stature-immunodeficiency syndrome is an extremely rare genetic condition that combines several features affecting different parts of the body. The hallmark signs include missing or underdeveloped thumbs (absent thumbs), shorter-than-expected height (short stature), and a weakened immune system (immunodeficiency). Because the immune system does not work properly, affected individuals are more prone to frequent and sometimes severe infections, which can begin in infancy or early childhood. The condition falls under a group of disorders known as combined immunodeficiency syndr
How is Absent thumb-short stature-immunodeficiency syndrome inherited?
Absent thumb-short stature-immunodeficiency syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Absent thumb-short stature-immunodeficiency syndrome typically begin?
Typical onset of Absent thumb-short stature-immunodeficiency syndrome is neonatal. Age of onset can vary across affected individuals.