Living with Schinzel phocomelia syndrome
A very rare genetic condition present from birth with differences in the limb bones, pelvis, and genitals.
Understanding Schinzel phocomelia syndrome
Features can include missing bones in the arms and legs (the ulna or fibula), an underdeveloped pelvis, and differences in the genitals. Females may have an absent uterus, and males may have undescended testes. A doctor can suspect it from the signs, and genetic testing can confirm it.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing calf bone (fibula)
- Missing forearm bone (ulna)
- Underdeveloped pelvis
- Cleft hand and missing fingers or toes
- Absent uterus in females
- Short, small limbs
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 and genetic specialists.
- 3Consider genetic testing
Changes in WNT7A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Arthrogryposis Multiplex Congenita Support Inc. and Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Arthrogryposis Multiplex Congenita Support Inc., Little People of America
- 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 Arthrogryposis Multiplex Congenita Support Inc. 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
It is caused by changes in the WNT7A gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: al awadi-raas-rothschild syndrome; al-awadi/raas-rothschild syndrome; aplasia/hypoplasia of limbs and pelvis; congenital absence of ulna and fibula; limb/pelvis-hypoplasia/aplasia syndrome; phocomelia schinzel type
Patient organizations
- Arthrogryposis Multiplex Congenita Support Inc.Schinzel phocomelia syndrome · United States
- Little People of AmericaSchinzel phocomelia syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Schinzel phocomelia syndrome.
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