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Living with Orofaciodigital syndrome VIII

A rare X-linked condition with mouth, face, and finger or toe differences and mild intellectual disability.

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Understanding Orofaciodigital syndrome VIII

Orofaciodigital syndrome VIII is a rare X-linked condition with differences of the tongue, lip, nose, hands, and feet.

Features include a lobed tongue, underdeveloped epiglottis, a central cleft of the upper lip, a broad or split nose tip, and widely spaced eyes. People have extra fingers and toes, forearm and lower leg bone differences, duplicated big toes, short stature, and mild intellectual disability. GARD lists newborn and infant years as the usual onset.

Signs & symptoms

GARD doesn't list specific symptoms for this condition yet. Based on its summary, features may include:

  • Lobed tongue
  • Central cleft of the upper lip
  • Broad or split nose tip
  • Extra fingers and toes
  • Short stature
  • Mild intellectual disability

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include bone and joint specialists, ear, nose, and throat specialists and genetic specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

  4. Connect 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); 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
Bring these questions to your next doctor visit
Does the underdeveloped epiglottis affect breathing or swallowing?
Which specialists should manage the lip, hand, and foot differences?
Would genetic testing help my relatives?

Quick facts

Symptoms usually startNewborn and as an Infant
InheritanceX-Linked

GARD says changes in genes cause this condition. It is inherited in an X-linked way.

Genetic

Also known as: ofd8; ofds viii; oral-facial-digital syndrome edwards type; oral-facial-digital syndrome type 8; oral-facial-digital syndrome with hypoplastic epiglottis; oral-facial-digital syndrome, edwards type

Patient organizations

Source: NIH GARD · Orofaciodigital syndrome VIIIGARD ID 4060 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Orofaciodigital syndrome VIII.

Explore the Orofaciodigital syndrome VIII blog
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Explore research for Orofaciodigital syndrome VIII

Explore actively recruiting Orofaciodigital syndrome VIII studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Orofaciodigital syndrome VIII with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
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  • Eligibility is confirmed by the study team

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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