Living with Splenogonadal fusion-limb defects-micrognathia syndrome
A rare condition present at birth in which the spleen is joined to a reproductive gland, with limb and jaw differences.
Understanding Splenogonadal fusion-limb defects-micrognathia syndrome
People have limb differences, from missing limbs to very small, rudimentary limbs. Facial differences can include a cleft palate, a split uvula, a small tongue and a small jaw. Other differences may include undescended testes, a narrowed or closed anus, small lungs and heart differences. It is noticed during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Spleen joined to a gonad
- Limb differences
- Small lower jaw (micrognathia)
- Cleft palate
- Undescended testes
- Groin hernia
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, digestive system 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); Digestive system specialists (gastroenterologists); 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 cause this condition, but it doesn't list a gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of a gene is enough.
Also known as: sgfld (splenogonadal fusion limb defect syndrome) syndrome; sgfld syndrome; splenogonadal fusion limb defect syndrome; splenogonadal fusion with limb defects and micrognathia; splenogonadal fusion, limb defect, micrognathia 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
You are more than your diagnosis
Perspectives from people navigating life with Splenogonadal fusion-limb defects-micrognathia syndrome.
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