Living with DONSON-related microcephaly-short stature-limb abnormalities spectrum
A rare inherited condition with a small head from birth, short height, and limb differences that range from mild to severe.
Understanding DONSON-related microcephaly-short stature-limb abnormalities spectrum
Babies are born with a small head (microcephaly) and distinct facial features. Limb differences range from mild to severe. Short height is common and is often severe. Signs begin during pregnancy or in the newborn period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Small head from birth (microcephaly)
- Short height, often severe
- Limb differences, mild to severe
- Distinct facial features
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, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); 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
GARD says changes in a person's genes cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. The DONSON gene is named in the condition's title.
Also known as: dna replication fork stabilization factor donson-related microcephaly, short stature, limb abnormalities spectrum; donson-related microcephaly, short stature, limb abnormalities spectrum
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 DONSON-related microcephaly-short stature-limb abnormalities spectrum.
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