Living with X-linked intellectual disability, van Esch type
A rare X-linked condition with learning difficulty, low birth weight, short stature, small head, and low sex hormone levels.
Understanding X-linked intellectual disability, van Esch type
People may have low birth weight, a small head, and low sex hormone production (hypogonadism) that varies. Facial features are mild and include upslanted eye openings and a prominent nasal bridge. Signs begin in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Mild intellectual disability
- Short stature
- Small head size (microcephaly)
- Low sex hormone production (hypogonadism)
- Slow growth before birth
- Attention problems
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, genetic specialists, hormone specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in POLA1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Resolve: The National Infertility Association
- 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 Resolve: The National Infertility Association
- 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
X-linked intellectual disability, van Esch type, is caused by changes in the POLA1 gene and follows X-linked inheritance.
Also known as: mental retardation, x-linked, syndromic, van esch-o''driscoll type; van esch-o'driscoll syndrome; van esch-o'driscoll syndrome, x-linked recessive; veods; x-linked intellectual disability van esch type
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
Broader rare-disease groups
- 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 X-linked intellectual disability, van Esch type.
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