Living with NEK9-related lethal skeletal dysplasia
A rare bone condition seen before birth, with stiff joints, short bones, and a narrow chest.
Understanding NEK9-related lethal skeletal dysplasia
Babies move very little before birth (fetal akinesia). They have stiff, bent joints (contractures), shortened long bones, short broad ribs, a narrow chest, underdeveloped lungs, and a protruding belly. Short, bowed thigh bones may also be present.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short long bones
- Short, broad ribs
- Narrow chest
- Underdeveloped lungs
- Club feet
- Small lower jaw (micrognathia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, genetic specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in NEK9 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists changes in the NEK9 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: lccs10; lethal congenital contracture syndrome 10; lethal congenital contracture syndrome type 10; lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome; lethal skeletal dysplasia, fetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome; nima related kinase 9 lethal skeletal dysplasia
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with NEK9-related lethal skeletal dysplasia.
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