Living with Syndromic X-linked intellectual disability Nascimento type
An X-linked condition with intellectual disability, severe speech difficulty, distinct facial features, and extra body hair.
Understanding Syndromic X-linked intellectual disability Nascimento type
Features include a large head, a joined (single) eyebrow, deep-set eyes, large ears, and a wide mouth. Other signs are a low hairline, a short broad neck, extra body hair, dry skin, obesity, and seizures. Signs may begin in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Severe speech difficulty
- Delayed motor skills
- Large head and distinct facial features
- Extra body hair and dry skin
- Chronic constipation
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 UBE2A 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 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
Changes in the UBE2A gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: intellectual developmental disorder, x-linked syndromic, nascimento type, x-linked recessive; intellectual developmental disorder, x-linked, syndromic, nascimento type; intellectual disability, x-linked syndromic, nascimento-type; x-linked intellectual disability-nail dystrophy-seizures syndrome; x-linked intellectual disability, nascimento type
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 Syndromic X-linked intellectual disability Nascimento type.
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