Living with Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
A rare syndrome with cleft palate, distinct facial features, intestinal malrotation, and serious heart defects.
Understanding Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Features include a flat face, wide-set eyes, a flat back of the head, upward-slanting eyelid openings, cleft palate, a small lower jaw, a short neck, and severe congenital heart defects. The intestine may be twisted (malrotation). Other features can include curved little fingers, a two-lobed tongue, and split thumbs. GARD lists onset at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart differences, including an underdeveloped left heart
- Cleft palate
- Flat face
- Small lower jaw
- Short neck
- Curved little fingers
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 lists this condition as autosomal recessive, so a child inherits a changed copy of the gene from each parent. It doesn't name a gene.
Also known as: cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome; cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease; cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease; mcpherson clemens syndrome; mcpherson-clemens 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 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome.
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