Living with Coffin-Siris syndrome
A condition with developmental delay, underdeveloped nails on the pinky fingers or toes, and coarse facial features.
Understanding Coffin-Siris syndrome
Most people have mild to severe intellectual disability or delayed speech and motor skills. Fingertips or toe tips, and nails, are underdeveloped or absent, most often on the pinky finger or toe. Facial features often include a wide nose with a flat bridge, a wide mouth with thick lips, and thick eyebrows and eyelashes. There may be extra hair on the face and body but often sparse scalp hair. GARD lists onset during pregnancy and at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay and intellectual disability
- Underdeveloped fifth finger or toe nails
- Coarse facial features
- Heart differences
- Urinary and genital tract differences
- Behavior differences
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 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
National Foundation for Ectodermal Dysplasias 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); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias, 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 National Foundation for Ectodermal Dysplasias 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 dominant, so one changed copy of a gene can be enough. It doesn't name a gene on this page.
Also known as: css; dwarfism-onychodysplasia; fifth digit syndrome; short stature-onychodysplasia.
Patient organizations
- National Foundation for Ectodermal DysplasiasCoffin-Siris syndrome · United States
- Simons SearchlightCoffin-Siris syndrome · United States
- Coffin-Siris Syndrome FoundationCoffin-Siris syndrome · United States
- 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 Coffin-Siris syndrome.
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