Living with Short rib-polydactyly syndrome, Majewski type
A rare genetic condition present before or at birth that affects the ribs, limbs, face and other organs.
Understanding Short rib-polydactyly syndrome, Majewski type
Babies have a small chest with short ribs and a rounded belly, and very short limbs. They may have extra fingers or toes, short fingers, and small or missing nails. Facial features can include a prominent forehead, low-set ears, a small jaw and a cleft lip or palate. Kidney, digestive, heart and brain differences have also been reported. It is noticed during pregnancy or at birth.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features include:
- Small chest with short ribs
- Very short limbs
- Extra fingers or toes (polydactyly)
- Short fingers and small or missing nails
- Cleft lip or palate
- Small jaw (micrognathia)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
GARD says changes in genes cause this condition, but it doesn't list the gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: short rib-polydactyly syndrome type 2; srps, type ii
Patient organizations
- Little People of AmericaShort rib-polydactyly syndrome, Majewski type · United States
You are more than your diagnosis
Perspectives from people navigating life with Short rib-polydactyly syndrome, Majewski type.
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