Living with Lowry-Wood syndrome
A very rare inherited condition with short height, a small head, bone differences at the ends of long bones, and some learning delay.
Understanding Lowry-Wood syndrome
In the first reported cases, babies also had congenital nystagmus (involuntary eye movements). Fewer than 10 cases have been described. Intellectual disability of varying degrees has been reported. Occasional features include retinitis pigmentosa and coxa vara (a hip bone angle difference).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Changes at the ends of long bones (epiphyseal dysplasia)
- Small head (microcephaly)
- Intellectual disability
- Involuntary eye movements (nystagmus)
- Hip bone angle difference (coxa vara)
- Retina pigment changes
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 and genetic specialists.
- 3Consider genetic testing
Changes in RNU4ATAC 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)
- 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
It is caused by changes in the RNU4ATAC gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: epiphyseal dysplasia-microcephaly-nystagmus syndrome; epiphyseal dysplasia, microcephalus, nystagmus syndrome; epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy; lowry wood syndrome; lws
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 Lowry-Wood syndrome.
Explore research for Lowry-Wood syndrome
Explore actively recruiting Lowry-Wood syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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