Living with Lethal Kniest-like syndrome
A rare inherited bone condition (dyssegmental dysplasia) with short limbs and a narrow chest, noticed before or at birth.
Understanding Lethal Kniest-like syndrome
It involves uneven spine bones, severe short stature, shortened limbs, a flat face, unusual ears, a short neck, and a narrow chest. It can also include joint contractures, bowed limbs, clubfoot, and differences in the urinary, genital, or heart systems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe short stature
- Shortened limbs (micromelia)
- Flat face
- Narrow chest
- Short neck
- Clubfeet
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in HSPG2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America
- 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
It is caused by changes in the HSPG2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: ddsh; dyssegmental dysplasia; dyssegmental dysplasia silverman handmaker type; dyssegmental dysplasia, silverman-handmaker type; silverman-handmaker type dyssegmental dysplasia
Patient organizations
- Little People of AmericaLethal Kniest-like syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Lethal Kniest-like syndrome.
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