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Living with Nager syndrome

A rare condition that mainly affects how the face, hands, and arms develop, from birth.

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Understanding Nager syndrome

Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms.

Severity varies. Children are born with underdeveloped cheekbones and a very small lower jaw, often with a cleft palate, which can cause feeding problems. The airway can be partly blocked by the small jaw. About 60 percent have hearing loss from middle ear problems. Intelligence is not affected, although speech may be delayed because of hearing loss. Thumbs may be small or missing, and the forearm bone (radius) may be underdeveloped.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Underdeveloped cheekbones
  • Very small lower jaw (micrognathia)
  • Cleft palate
  • Hearing loss
  • Small or missing thumbs
  • Eyes that slant downward

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, eye disease specialists and genetic specialists.

  3. Consider genetic testing

    Changes in SF3B4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

  4. Connect with expert centers

    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); Eye disease specialists (ophthalmologists); 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 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
Bring these questions to your next doctor visit
Should we have genetic testing for the SF3B4 gene?
How can we support feeding and breathing in early life?
How often should hearing be checked?

Quick facts

Symptoms usually startduring Pregnancy and as a Newborn
InheritanceAutosomal Dominant, Autosomal Recessive
GenesSF3B4

GARD lists changes in the SF3B4 gene. It can be inherited in an autosomal dominant or an autosomal recessive pattern.

Genetic

Also known as: acrofacial dysostosis 1, nager type; afd1; mandibulofacial dysostosis with preaxial limb anomalies; mandibulofacial dysostosis, treacher collins type, with limb anomalies; nafd; nager acrofacial dysostosis

Patient organizations

Source: NIH GARD · Nager syndromeGARD ID 498 · 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

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Explore research for Nager syndrome

Explore actively recruiting Nager syndrome studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Nager syndrome 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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