Living with Diaphragmatic defect-limb deficiency-skull defect syndrome
A very rare condition reported in one family, with a hole in the diaphragm, small lungs, and limb and skull differences.
Understanding Diaphragmatic defect-limb deficiency-skull defect syndrome
It has been reported only once, in four pregnancies of one couple. Features include a hernia in the diaphragm, small lungs, a belly wall opening, severely underdeveloped limbs, joined toes, an extra spleen, and a skull that did not harden fully. The mix varied between the four. It may be autosomal recessive or due to a gene change in some of a parent's egg or sperm cells.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hernia in the diaphragm
- Underdeveloped lungs
- Underdeveloped arms and legs
- Differences in the forearm and lower leg bones
- Differences in the shoulder blade and thigh bone
- Joined toes (syndactyly)
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 digestive system specialists, genetic specialists and heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- 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. It may be autosomal recessive, or it may come from a gene change in some of a parent's egg or sperm cells (gonadal mosaicism).
Also known as: diaphragmatic defects, limb deficiencies, and ossification defects of skull; froster syndrome; froster-huch 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
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Perspectives from people navigating life with Diaphragmatic defect-limb deficiency-skull defect syndrome.
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