Living with Cardiac anomalies - developmental delay - facial dysmorphism syndrome
A condition that causes developmental delay, intellectual disability, and small differences in facial features.
Understanding Cardiac anomalies - developmental delay - facial dysmorphism syndrome
It involves developmental delay, intellectual disability, and minor differences in facial features. Some people also have seizures (epilepsy) or heart defects present from birth. Delay and disability are usually moderate to severe. Early signs include low muscle tone and late motor skills. It starts in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development overall (global developmental delay)
- Delayed speech and language
- Moderate intellectual disability
- Low muscle tone (hypotonia)
- Delayed motor skills
- Autistic 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, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in MED13L 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); Heart and blood vessel specialists (cardiologists)
- 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 and other patient organizations
- 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 MED13L gene cause this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: asadollahi-rauch syndrome; asras; developmental delay-facial dysmorphism syndrome due to med13l deficiency; developmental delay, facial dysmorphism syndrome due to med13l deficiency; developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency; impaired intellectual development and distinctive facial features with or without cardiac defects
Patient organizations
- Simons SearchlightCardiac anomalies - developmental delay - facial dysmorphism syndrome · United States
- MED13L FoundationCardiac anomalies - developmental delay - facial dysmorphism syndrome · United States
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