Living with Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
A rare genetic condition with delayed development, low muscle tone, palate differences, and widely spaced teeth.
Understanding Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
It causes delays in development, low muscle tone, and differences in the roof of the mouth. Children have certain facial features and are often shorter than expected. Some also have differences in the fingers, toes, eyes, or urinary and genital system. Signs are usually seen in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in development, including speech and walking
- Low muscle tone (hypotonia)
- Cleft or high, narrow palate
- Widely spaced teeth
- Prominent forehead and wide nasal bridge
- Eyes that turn in or out (strabismus)
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 brain and nervous system specialists, ear, nose, and throat specialists, genetic specialists and gum, teeth and mouth specialists.
- 3Consider genetic testing
Changes in KDM1A 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
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- 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
Changes in the KDM1A gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: cleft palate, psychomotor retardation, and distinctive facial features; palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay 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
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