Overview
Sakati-Nyhan syndrome, also known as Sakati-Nyhan-Tisdale syndrome or acrocephalopolydactylous dysplasia, is an extremely rare genetic condition that was described in only a handful of patients. This condition is now classified as 'obsolete' in medical databases, meaning it may have been reclassified or merged with another recognized syndrome over time. The original descriptions noted a combination of skeletal abnormalities present at birth, including an unusually shaped skull (craniosynostosis, where skull bones fuse too early), extra fingers or toes (polydactyly), shortened limbs, and other bone malformations. Some patients also had congenital heart defects and abnormalities of the face and ears. Because so few cases were ever reported, our understanding of this condition is very limited. The features overlap with other acrocephalopolysyndactyly syndromes, which are a group of conditions involving skull and limb abnormalities. It is possible that cases originally labeled as Sakati-Nyhan syndrome would today be diagnosed under a different, better-defined condition using modern genetic testing. Families who were given this diagnosis in the past should consider consulting a clinical geneticist to see if updated genetic testing could provide a more precise diagnosis and guide management.
Also known as:
Key symptoms:
Abnormally shaped skull due to early fusion of skull bonesExtra fingers or toesShort limbsShortened or malformed long bonesCongenital heart defectsAbnormal facial featuresLow-set or abnormally shaped earsShort statureAbnormal rib cage shapePossible developmental delays
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 OBSOLETE: Sakati-Nyhan syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Sakati-Nyhan 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 OBSOLETE: Sakati-Nyhan 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
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.Could modern genetic testing help clarify or update my child's diagnosis?,Does my child need surgery for the skull shape abnormality, and when should it be done?,Are there any heart defects that need to be monitored or treated?,What developmental milestones should I watch for, and when should I be concerned?,What specialists should be part of my child's care team?,What is the chance of having another child with this condition?,Are there any related conditions we should be tested for?
Common questions about OBSOLETE: Sakati-Nyhan syndrome
What is OBSOLETE: Sakati-Nyhan syndrome?
Sakati-Nyhan syndrome, also known as Sakati-Nyhan-Tisdale syndrome or acrocephalopolydactylous dysplasia, is an extremely rare genetic condition that was described in only a handful of patients. This condition is now classified as 'obsolete' in medical databases, meaning it may have been reclassified or merged with another recognized syndrome over time. The original descriptions noted a combination of skeletal abnormalities present at birth, including an unusually shaped skull (craniosynostosis, where skull bones fuse too early), extra fingers or toes (polydactyly), shortened limbs, and other
How is OBSOLETE: Sakati-Nyhan syndrome inherited?
OBSOLETE: Sakati-Nyhan syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Sakati-Nyhan syndrome typically begin?
Typical onset of OBSOLETE: Sakati-Nyhan syndrome is neonatal. Age of onset can vary across affected individuals.