Skip to content
knowrare
HealthSignal
Your condition community

Living with Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

A rare genetic condition with extra fingers, a small pituitary gland causing low hormone levels, and distinctive facial features.

Get Signals Ask Anything

Understanding Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare condition with extra fingers, pituitary gland differences and unusual facial features.

The pituitary differences lead to low pituitary hormones (hypopituitarism). This can cause short stature, slowed growth and sexual development, and diabetes insipidus. Facial features can include close-set eyes, a cleft lip or palate and a flat nose. Extra fingers are usually beside the little finger. It starts during pregnancy or in the newborn period.

Signs & symptoms

GARD lists these among the less common symptoms:

  • Extra finger beside the little finger
  • Low pituitary hormones (hypopituitarism)
  • Short stature and slowed growth
  • Close-set eyes and flat nose
  • Cleft lip or cleft palate
  • Diabetes insipidus

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, genetic specialists and hormone specialists.

  3. Consider genetic testing

    Changes in GLI2 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

    Pituitary Network Association may keep lists of experts for this condition.

Care & treatment

Care team
Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
Expert care
Expert lists: Pituitary Network Association
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 Pituitary Network Association
  • 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 GLI2, and should relatives be tested?
Which hormones need to be checked or replaced?
Which specialists, such as endocrinology, should be involved?

Quick facts

Symptoms usually startduring Pregnancy and as a Newborn
InheritanceAutosomal Dominant
GenesGLI2

Changes in the GLI2 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough. Other changes in GLI2 can cause a different, more severe condition called holoprosencephaly-9.

GeneticEndocrine

Also known as: culler-jones syndrome

Patient organizations

Broader rare-disease groups

Source: NIH GARD · Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeGARD ID 13349 · 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 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome.

Explore the Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism 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 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Explore actively recruiting Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism 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 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism 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 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

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

HealthStoryfor Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism 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 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism 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.