Living with Mohr syndrome
A genetic condition that affects how the mouth, face, hands, and feet develop, sometimes with heart defects.
Understanding Mohr syndrome
It belongs to a group of conditions called orofaciodigital syndromes. Signs can include cleft lip or palate, extra or fused fingers or toes, distinctive facial features, and heart defects present from birth. It is very similar to orofaciodigital syndrome type 1. Signs are seen during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cleft lip or cleft palate
- Cleft or lumpy tongue
- Extra or fused fingers and toes
- Broad big toes
- Missing or underdeveloped teeth
- 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 bone and joint specialists, brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in NEK1 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
American Cleft Palate Craniofacial Association and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: American Cleft Palate Craniofacial Association, 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 American Cleft Palate 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 lists the NEK1 gene, but also says the exact gene has not been identified. It is believed to be inherited in an autosomal recessive pattern, which means a child inherits a changed copy of the gene from each parent.
Also known as: ofd ii - orofacial-digital syndrome ii; ofd syndrome type ii; ofd2; ofds ii; oral-facial-digital syndrome type 2; oral-facial-digital syndrome, type ii
Patient organizations
- American Cleft Palate Craniofacial AssociationMohr syndrome · United States
- FACES: The National Craniofacial AssociationMohr 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 Mohr syndrome.
Explore research for Mohr syndrome
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