Living with Tetraamelia-multiple malformations syndrome
An extremely rare condition with missing limbs and differences in many body systems from birth.
Understanding Tetraamelia-multiple malformations syndrome
Other body parts often affected include the head, face, eyes, skeleton, heart, lungs, anus, urinary and genital organs, and brain. GARD says it has been described in fewer than 20 people, mainly of Middle Eastern descent.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Absence of the arms
- Absent or small lungs
- Small eyes (microphthalmia)
- No anal opening (anal atresia)
- Cleft of the mouth (orofacial cleft)
- Heart wall differences
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 bone and joint specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- 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
GARD says changes in genes (variants) cause this condition and lists both autosomal recessive and X-linked inheritance. It doesn't name a specific gene.
Also known as: tetra-amelia with multiple malformation syndrome; tetraamelia with multiple malformation syndrome; zimmer phocomelia
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 Tetraamelia-multiple malformations syndrome.
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