Overview
Ossification anomalies-psychomotor developmental delay syndrome (also known by its Orphanet code ORPHA:73230) is a very rare condition that affects how bones form and how the brain and body develop together. 'Ossification' refers to the process of bone formation, and in this syndrome, that process does not happen normally. This can lead to bones that are shaped differently, form too early, or are missing in certain areas. At the same time, children with this condition often experience delays in reaching developmental milestones — such as sitting, walking, and talking — which is what 'psychomotor developmental delay' means. The syndrome affects multiple body systems, including the skeleton and the nervous system. Children may have unusual bone structures visible on X-rays, along with intellectual disability and motor difficulties. Because this condition is extremely rare, much of what is known comes from a very small number of reported cases. There is currently no cure, and treatment focuses on managing symptoms, supporting development through therapy, and monitoring bone health. Early intervention with physical therapy, occupational therapy, and speech therapy can make a meaningful difference in a child's quality of life.
Key symptoms:
Delayed development of motor skills such as sitting, crawling, and walkingIntellectual disability or learning difficultiesAbnormal bone formation or bone shape seen on X-raysUnusual facial featuresShort stature or slow growthMuscle weakness or low muscle toneDelayed or absent speech developmentJoint problems or limited joint movement
Clinical phenotype terms (36)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Ossification anomalies-psychomotor developmental delay syndrome.
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Specialists
View all specialists →No specialists are currently listed for Ossification anomalies-psychomotor developmental delay 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 Ossification anomalies-psychomotor developmental delay 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.What genetic tests should we do to try to find the cause of my child's condition?,Which therapies — physical, occupational, or speech — should we start first, and how often?,How often should my child's bones be monitored, and what imaging is recommended?,Are there any clinical trials or research studies we could participate in?,What signs should prompt us to seek emergency care?,How can we connect with other families affected by this condition?,What educational supports should we request for my child at school?
Common questions about Ossification anomalies-psychomotor developmental delay syndrome
What is Ossification anomalies-psychomotor developmental delay syndrome?
Ossification anomalies-psychomotor developmental delay syndrome (also known by its Orphanet code ORPHA:73230) is a very rare condition that affects how bones form and how the brain and body develop together. 'Ossification' refers to the process of bone formation, and in this syndrome, that process does not happen normally. This can lead to bones that are shaped differently, form too early, or are missing in certain areas. At the same time, children with this condition often experience delays in reaching developmental milestones — such as sitting, walking, and talking — which is what 'psychomot
At what age does Ossification anomalies-psychomotor developmental delay syndrome typically begin?
Typical onset of Ossification anomalies-psychomotor developmental delay syndrome is neonatal. Age of onset can vary across affected individuals.