Overview
NEK9-related lethal skeletal dysplasia is an extremely rare and severe genetic bone disorder caused by mutations in the NEK9 gene. This condition belongs to a group of diseases called skeletal dysplasias, which affect how bones and cartilage develop. Babies with this condition have very short limbs, a narrow chest, and other skeletal abnormalities that are usually detected before birth on prenatal ultrasound. The narrow chest severely restricts lung development, which makes it very difficult or impossible for affected babies to breathe on their own after birth. The condition is also sometimes classified under the broader category of short-rib polydactyly syndromes or lethal short-limbed skeletal dysplasias. Key features include extremely shortened long bones (arms and legs), a small and narrow rib cage, and sometimes extra fingers or toes. Internal organs may also be affected in some cases. Unfortunately, this condition is lethal, meaning that affected babies typically do not survive beyond the newborn period due to severe respiratory insufficiency caused by the underdeveloped lungs and small chest cavity. There is currently no cure or effective treatment for this condition. Care is focused on providing comfort and supporting families through this devastating diagnosis. Genetic counseling is an important part of management for affected families who may wish to understand their chances of having another affected child in future pregnancies.
Also known as:
Key symptoms:
Severely shortened arms and legsVery narrow and small chestUnderdeveloped lungsDifficulty breathing or inability to breathe at birthShort ribsAbnormal bone development visible on X-rayPossible extra fingers or toesReduced fetal movement during pregnancyExcess amniotic fluid during pregnancyFlattened vertebraeAbnormal shape of the pelvis
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 NEK9-related lethal skeletal dysplasia.
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Specialists
View all specialists →No specialists are currently listed for NEK9-related lethal skeletal dysplasia.
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 NEK9-related lethal skeletal dysplasia.
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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.How certain is the diagnosis, and what tests confirmed it?,What can we expect during the remainder of the pregnancy and at birth?,What comfort care options are available for our baby after birth?,What is the chance that this could happen again in a future pregnancy?,Can we do genetic testing to find out if we are carriers?,Is prenatal testing available for future pregnancies?,What emotional and psychological support services are available for our family?
Common questions about NEK9-related lethal skeletal dysplasia
What is NEK9-related lethal skeletal dysplasia?
NEK9-related lethal skeletal dysplasia is an extremely rare and severe genetic bone disorder caused by mutations in the NEK9 gene. This condition belongs to a group of diseases called skeletal dysplasias, which affect how bones and cartilage develop. Babies with this condition have very short limbs, a narrow chest, and other skeletal abnormalities that are usually detected before birth on prenatal ultrasound. The narrow chest severely restricts lung development, which makes it very difficult or impossible for affected babies to breathe on their own after birth. The condition is also sometimes
How is NEK9-related lethal skeletal dysplasia inherited?
NEK9-related lethal skeletal dysplasia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does NEK9-related lethal skeletal dysplasia typically begin?
Typical onset of NEK9-related lethal skeletal dysplasia is neonatal. Age of onset can vary across affected individuals.