Skip to content
knowrare
HealthSignal
Your condition community

Living with Upper limb defect-eye and ear abnormalities syndrome

A rare condition present at birth with a small thumb and hand bones, hearing loss, eye differences, and developmental delay.

Get Signals Ask Anything

Understanding Upper limb defect-eye and ear abnormalities syndrome

Upper limb defect-eye and ear abnormalities syndrome is a rare condition with underdeveloped thumbs, eye and ear differences, and developmental delay.

People have an underdeveloped thumb and hand bones, delayed bone development, hearing loss from the nerve pathway (central hearing loss), a poorly developed outer ear, gaps in the retina area of both eyes (choroid coloboma), and slow growth. It is noticed in the newborn period or infancy.

Signs & symptoms

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

  • Short or underdeveloped thumb
  • Short hand bones
  • Global developmental delay
  • Hearing impairment
  • Gap in the back of the eye (chorioretinal coloboma)
  • Cataract

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 brain and nervous system specialists, eye disease specialists and genetic specialists.

  3. Ask which tests can help

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

Care & treatment

Care team
Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
Expert care
Ask about multidisciplinary care centers for rare conditions
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 rare disease patient organizations for support
  • 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
Would genetic counseling help our family?
Which specialists should check hearing, vision, and hand function?
What therapies could help with development?

Quick facts

Symptoms usually startNewborn and as an Infant
InheritanceAutosomal Recessive

GARD says this condition is autosomal recessive, so a child inherits a changed copy of a gene from each parent. It doesn't name a specific gene.

GeneticNeurological

Also known as: thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness

Patient organizations

Rare-disease groups that can help

Source: NIH GARD · Upper limb defect-eye and ear abnormalities syndromeGARD ID 16602 · 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 Upper limb defect-eye and ear abnormalities syndrome.

Explore the Upper limb defect-eye and ear abnormalities syndrome blog
Broader resource

9 Things to Know After Diagnosis

Read article
Broader resource

The Invisible Job: What Caregiving for a Rare Disease Really Looks Like

Read article
Broader resource

Embrace the Ask: How to Seek The Support You Need

Read article
Your experience could help someone else.

Share your story with our editorial team.

Share your story You choose what to share.

Explore research for Upper limb defect-eye and ear abnormalities syndrome

Explore actively recruiting Upper limb defect-eye and ear abnormalities syndrome studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Upper limb defect-eye and ear abnormalities syndrome with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
  • Share your city to look for research near you
  • Eligibility is confirmed by the study team

Powered by HealthSpark, our AI chat helper

I can help you find recruiting Upper limb defect-eye and ear abnormalities syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.

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

Get Signals for Upper limb defect-eye and ear abnormalities syndrome

Stay in the loop with community stories and updates from medical researchers.

HealthStoryfor Upper limb defect-eye and ear abnormalities syndrome

Create a living journal that talks back

HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Upper limb defect-eye and ear abnormalities syndrome experiences more deeply and prepare for better conversations with your doctors and care team.

Start your journal

Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.