Living with Dysmorphism-cleft palate-loose skin syndrome
A rare genetic condition with a cleft palate, loose skin with creases on the arms and legs, distinct facial features, and severe delays in development.
Understanding Dysmorphism-cleft palate-loose skin syndrome
People have severe developmental delay and intellectual disability, a cleft palate, and symmetrical skin creases around the arms and legs. Facial features include an elongated face, high forehead, and a small lower jaw. Short height, a small head, low muscle tone, a sunken chest, severe scoliosis, and hearing loss have also been reported. Signs begin during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cleft palate
- Intellectual disability
- Loose, extra skin
- Low muscle tone (hypotonia)
- Small lower jaw (micrognathia)
- Long face and tall height
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 FACES: The National Craniofacial Association 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: dysmorphism, cleft palate, loose skin syndrome; facial dysmorphism, cleft palate, loose skin syndrome
Patient organizations
- FACES: The National Craniofacial AssociationDysmorphism-cleft palate-loose skin syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Dysmorphism-cleft palate-loose skin syndrome.
Explore research for Dysmorphism-cleft palate-loose skin syndrome
Explore actively recruiting Dysmorphism-cleft palate-loose skin syndrome studies with HealthSpark.
Find actively recruiting studies for Dysmorphism-cleft palate-loose skin syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Dysmorphism-cleft palate-loose skin syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Dysmorphism-cleft palate-loose skin syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Dysmorphism-cleft palate-loose skin syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.