Living with Type IV short rib polydactyly syndrome
A rare genetic bone condition with short ribs, a small chest, short bones, and brain and organ differences.
Understanding Type IV short rib polydactyly syndrome
Other bone findings include small hip bones, short limb bones, and bowed forearm bones. Brain differences are common, but extra fingers are rare. Other features can include cleft lip, missing internal genitals, and cysts in the kidneys, bile ducts, and pancreas. It starts during pregnancy.
Signs & symptoms
GARD doesn't list a separate symptom list. The summary describes these features:
- Short ribs and a small chest
- Short limb bones and bowed forearm bones
- Small hip bones
- Brain differences
- Cleft lip
- Cysts in the kidneys, bile ducts, or pancreas
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, genetic specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in IFT80 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
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); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: 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 Little People of America
- 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
This condition is caused by changes in the IFT80 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: beemer-langer syndrome; beemer-langer type short rib polydactyly syndrome; short rib polydactyly syndrome, beemer-langer type; short rib syndrome, beemer type; short rib-polydactyly syndrome beemer type; short rib-polydactyly syndrome type 4
Patient organizations
- Little People of AmericaType IV short rib polydactyly syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Type IV short rib polydactyly syndrome.
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