Overview
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a very rare genetic condition that affects multiple parts of the body at the same time. The name describes three of its main features: extra fingers or toes on the outer (pinky) side of the hands or feet (called postaxial polydactyly), problems with the front part of the pituitary gland (a small but important gland at the base of the brain that controls many hormones), and unusual facial features that are present from birth. Because the pituitary gland helps control growth, thyroid function, stress hormones, and puberty, problems with it can lead to slow growth, low blood sugar in newborns, and hormone deficiencies that need lifelong treatment. The facial differences can include a small head size, widely spaced eyes, a flat nasal bridge, and other subtle changes. This syndrome is also sometimes referred to by its Orphanet code ORPHA:420584 and falls under the broader category of rare congenital malformation syndromes. Treatment focuses on managing each symptom individually. Hormone replacement therapy can address pituitary hormone deficiencies, and surgery may be used to remove the extra digit. Because this condition is so rare, care is typically coordinated by a team of specialists including a clinical geneticist, pediatric endocrinologist, and others depending on which body systems are affected.
Also known as:
Key symptoms:
Extra finger or toe on the outer (pinky) side of the hand or footPituitary gland that is underdeveloped or not working properlyShort stature or slow growth due to growth hormone deficiencyLow blood sugar (hypoglycemia) in newbornsUnusual facial features present from birthSmall head size (microcephaly)Widely spaced eyesFlat or broad nasal bridgeHormone deficiencies affecting thyroid, adrenal glands, or pubertyDelayed puberty or absent puberty without hormone treatment
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which hormone deficiencies does my child have, and what medications will they need long-term?,What are the signs of an adrenal crisis and what should I do if one happens?,Has genetic testing identified the specific gene change causing this syndrome in my child?,What is the recommended timing and approach for surgery to remove the extra digit?,How often should my child have hormone levels checked, and what are the target ranges?,Are there any other organ systems we should monitor that might be affected?,Are there any patient registries or research studies we could participate in to help advance understanding of this condition?
Common questions about Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
What is Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome?
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a very rare genetic condition that affects multiple parts of the body at the same time. The name describes three of its main features: extra fingers or toes on the outer (pinky) side of the hands or feet (called postaxial polydactyly), problems with the front part of the pituitary gland (a small but important gland at the base of the brain that controls many hormones), and unusual facial features that are present from birth. Because the pituitary gland helps control growth, thyroid function, stress hormones, and
How is Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome inherited?
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome typically begin?
Typical onset of Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is neonatal. Age of onset can vary across affected individuals.