Living with Dysraphism-cleft lip/palate-limb reduction defects syndrome
A rare condition that develops before birth, with spinal and brain differences, cleft lip and palate, and limb differences.
Understanding Dysraphism-cleft lip/palate-limb reduction defects syndrome
It includes spina bifida (a gap in the spine), cleft lip and palate, differences in the limbs such as underdeveloped bones, and differences in how the brain forms. Heart differences and an abdominal wall opening (gastroschisis) have also been listed. GARD notes there have been no new descriptions in the medical literature since 1994.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Spina bifida
- Cleft lip and palate
- Underdeveloped forearm bone (radius)
- Gastroschisis (opening in the belly wall)
- Hole in the heart wall (ventricular septal defect)
- Underdeveloped left side of the heart
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 ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 World Craniofacial Foundation 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
GARD says changes in a person's genes cause this condition. It doesn't list a specific gene.
Also known as: dysraphism, cleft lip and palate, limb reduction defect syndrome; medeira dennis donnai syndrome; medeira-dennis-donnai syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Dysraphism-cleft lip/palate-limb reduction defects syndrome.
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