Living with Cholestasis-pigmentary retinopathy-cleft palate syndrome
A rare condition present from birth that affects the liver, kidneys, intestines, eyes, heart, and face.
Understanding Cholestasis-pigmentary retinopathy-cleft palate syndrome
Features include blocked liver and kidney drainage, intestinal malrotation, differences in the urinary and genital tract, cleft lip and palate, pigmentary retinopathy (breakdown of the light-sensing tissue at the back of the eye), and heart defects. GARD says the cause is unknown.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cleft lip and palate
- Bile duct and gallbladder differences
- Twisted intestines (malrotation)
- Retinal changes (pigmentary retinopathy)
- Heart muscle disease or narrowed aorta
- Short stature
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in MED12 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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); Eye disease specialists (ophthalmologists); 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 the cause remains unknown, though the MED12 gene is listed. It is X-linked, which means the gene is on the X chromosome.
Also known as: cholestasis with pigmentary retinopathy and cleft palate syndrome; hardikar syndrome; hdkr
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 Cholestasis-pigmentary retinopathy-cleft palate syndrome.
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