Living with Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
A rare genetic condition (SETD5-related) that affects brain development, facial features, and several body systems.
Understanding Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
It is linked to having only one working copy of the SETD5 gene. Intellectual disability ranges from mild to more severe. Many people have low muscle tone, delays in sitting, standing, or walking, and feeding trouble in infancy. Autism and slow growth are possible. Less often there are heart, digestive, or kidney differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Low muscle tone and delayed walking
- Autistic behavior
- Nearsightedness and astigmatism
- Bulbous nose
- Broad end bones in the fingers
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 Simons Searchlight
- 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
It is linked to having only one working copy of the SETD5 gene (haploinsufficiency). It is inherited in an autosomal dominant pattern.
Also known as: autosomal dominant intellectual disability 23; intellectual developmental disorder, autosomal dominant 23; intellectual disability, autosomal dominant type 23; mrd23
Patient organizations
- Simons SearchlightIntellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency · United States
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Perspectives from people navigating life with Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency.
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