OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome

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Overview

Hypopituitarism-postaxial polydactyly syndrome is a very rare condition that combines two main problems: the pituitary gland not working properly, and extra fingers or toes on the outer (pinky) side of the hands or feet. This condition is also sometimes referred to in older medical literature as a form of pituitary dwarfism with polydactyly. Because this entry is now marked as 'obsolete' in the Orphanet rare disease database, it is possible that this syndrome has been reclassified, merged with another condition, or found to overlap significantly with other known syndromes. The pituitary gland sits at the base of the brain and acts like the body's master hormone control center. When it does not work correctly (hypopituitarism), the body may not produce enough growth hormone, thyroid-stimulating hormone, or other important hormones. This can lead to very slow growth, low blood sugar, fatigue, and problems with puberty. The extra digits (postaxial polydactyly) are present from birth and appear on the outer edge of the hand or foot. Because this syndrome is extremely rare and its classification has changed over time, detailed information is limited. Treatment is generally focused on managing the hormone deficiencies — for example, using growth hormone replacement therapy or other hormone supplements — and surgically correcting the extra digits if needed. Families are encouraged to work with a team of specialists to address each aspect of the condition.

Key symptoms:

Extra finger or toe on the outer (pinky) side of the hand or footVery slow growth or short statureLow blood sugar, especially in newbornsFatigue and low energyDelayed pubertyUnderactive thyroid (feeling cold, sluggish, or gaining weight easily)Small genitals in male newbornsPossible intellectual or developmental delays

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome.

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No actively recruiting trials found for OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome at this time.

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No specialists are currently listed for OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Which hormones is my child's pituitary gland not producing, and how will we replace them?,Should we do genetic testing to find the underlying cause, and what type of test is best?,When and how should the extra digit be surgically removed?,What are the signs of a hormone crisis, and what should I do in an emergency?,How often does my child need blood tests and specialist check-ups?,Will my child's growth and development catch up with treatment?,Are there other conditions that look like this one that we should rule out?

Common questions about OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome

What is OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome?

Hypopituitarism-postaxial polydactyly syndrome is a very rare condition that combines two main problems: the pituitary gland not working properly, and extra fingers or toes on the outer (pinky) side of the hands or feet. This condition is also sometimes referred to in older medical literature as a form of pituitary dwarfism with polydactyly. Because this entry is now marked as 'obsolete' in the Orphanet rare disease database, it is possible that this syndrome has been reclassified, merged with another condition, or found to overlap significantly with other known syndromes. The pituitary gland

How is OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome inherited?

OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome typically begin?

Typical onset of OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome is neonatal. Age of onset can vary across affected individuals.