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Living with TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome

A rare genetic condition with developmental delay, heart defects, facial differences, and hand or finger differences.

Understanding TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome

TRAF7-associated syndrome is a rare genetic condition with developmental delay, heart defects, facial differences, and finger or toe differences, present from birth.

Heart defects vary. Facial features can include drooping eyelids, eye folds, and differently set ears. Some people also have low or high muscle tone, seizures, hearing loss, or vision problems. Brain imaging may show changes in the brain. It starts during pregnancy and is noticed in the newborn period.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

Global developmental delay
Delayed speech and language
Heart defects, such as patent ductus arteriosus
Low muscle tone (hypotonia)
Drooping upper eyelids (ptosis) and eye folds
Feeding difficulties and hearing impairment

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, genetic specialists and heart and blood vessel specialists.
Consider genetic testing
Changes in TRAF7 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: Bone and joint specialists (orthopedists or orthopedic surgeons); 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

Bring these questions to your next doctor visit

Can genetic testing of the TRAF7 gene confirm this diagnosis?

Which specialists should check the heart, hearing, and vision?

What therapies can help with speech and movement?

Quick facts

Symptoms usually startduring Pregnancy and as a Newborn

InheritanceAutosomal Dominant

GenesTRAF7

This condition is caused by changes in the TRAF7 gene. It is autosomal dominant, which means one changed copy of the gene can be enough to cause it.

GeneticNeurological

Also known as: traf7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome; tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech 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

Source: NIH GARD · TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndromeGARD ID 22370 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

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Explore research for TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome

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