Living with Intellectual developmental disorder with cardiac defects and dysmorphic facies
A rare genetic condition with developmental delay, heart differences, extra body hair, and distinct facial features.
Understanding Intellectual developmental disorder with cardiac defects and dysmorphic facies
It brings global developmental delay, heart defects present from birth, extra body hair (hypertrichosis), and distinct facial features. These include a triangular face, thick arched eyebrows, widely spaced eyes, low-set ears, and a pointed chin. It begins during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Extra body hair (hypertrichosis)
- Highly arched eyebrows
- Flat nasal bridge
- Large earlobes
- Long 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
Specialists who may be involved include brain and nervous system specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in TMEM94 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 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 TMEM94 gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: iddcdf; tmem94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome; tmem94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome; transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
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 Intellectual developmental disorder with cardiac defects and dysmorphic facies.
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