Living with Ogden syndrome
A rare genetic condition with slow growth, severe developmental delay, low muscle tone, and an aged-looking face.
Understanding Ogden syndrome
Babies often have wide-open soft spots (fontanels), low muscle tone, small hands and feet, scoliosis, and loose skin with little fat under it. A waddling walk is also described, along with heart rhythm problems. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development overall
- Low muscle tone (hypotonia)
- Slow growth in childhood
- Curved spine (scoliosis)
- Fine hair and sparse eyebrows
- Broad big toes
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in NAA10 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
- 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 Ogden C.A.R.E.S.
- 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
Changes in the NAA10 gene cause this condition. It is inherited in an X-linked way.
Also known as: n-alpha-acetyltransferase; n-terminal acetyltransferase deficiency; ogden syndrome, x-linked recessive, x-linked dominant; ogdns; premature ageing appearance-developmental delay-cardiac arrhythmia syndrome; premature aging appearance-developmental delay-cardiac arrhythmia syndrome
Patient organizations
- Ogden C.A.R.E.S.Ogden syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Ogden syndrome.
Explore research for Ogden syndrome
Explore actively recruiting Ogden syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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