Living with Neurodevelopmental disorder with alopecia and brain abnormalities
A rare genetic condition with developmental delay, hair loss, a large head, and differences in brain structure.
Understanding Neurodevelopmental disorder with alopecia and brain abnormalities
People have global developmental delay, hair loss (alopecia), a large head, and differences in brain structure. Facial features can include a high, broad forehead, widely spaced eyes, and drooping eyelids. Other possible features include hearing loss, muscle stiffness, low muscle tone, small nails, and undescended testes. It can be seen during pregnancy or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Missing eyebrows and sparse eyelashes
- Large head (macrocephaly)
- Low muscle tone at birth
- Widely spaced eyes and drooping eyelids
- Attention problems and aggressive behavior
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 ODC1 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 Children's Alopecia Project, Inc.
- 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 ODC1 gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: bachmann bupp syndrome; bachmann-bupp syndrome; global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome; global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome; nedaba; ornithine decarboxylase deficiency
Patient organizations
- Children's Alopecia Project, Inc.Neurodevelopmental disorder with alopecia and brain abnormalities · United States
You are more than your diagnosis
Perspectives from people navigating life with Neurodevelopmental disorder with alopecia and brain abnormalities.
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