Overview
Diaphanospondylodysostosis (also sometimes called DSD) is an extremely rare and severe bone disorder that affects the spine and other parts of the skeleton before and after birth. The name comes from Greek and Latin words meaning 'transparent vertebrae,' which refers to how the bones of the spine appear unusually thin or underdeveloped on imaging. This condition is caused by changes (mutations) in the BMPER gene, which plays an important role in how bones form during early development. Babies born with this condition typically have very serious problems with their spine, including missing or poorly formed vertebrae (the small bones that make up the backbone). Many also have underdeveloped or absent sacrum (the bone at the base of the spine), kidney problems, and abnormalities of the ribs and other bones. Because the spine and surrounding structures are so severely affected, this condition often impacts breathing and organ function. Unfortunately, diaphanospondylodysostosis is considered a lethal or near-lethal condition in most cases, meaning many affected babies do not survive beyond the newborn period. There is currently no cure, and treatment focuses on comfort and supportive care. Families dealing with this diagnosis benefit greatly from a team of specialists including geneticists, neonatologists, and palliative care providers.
Also known as:
Key symptoms:
Missing or severely underdeveloped vertebrae (backbone bones)Absent or underdeveloped sacrum (the bone at the base of the spine)Abnormally shaped or missing ribsKidney abnormalities or absent kidneysVery small or narrow chestBreathing difficulties due to chest and rib problemsShort trunk (short body length)Abnormal appearance of the spine on X-ray or ultrasoundLow birth weight or small sizePossible limb abnormalities
Clinical phenotype terms (11)— hover any for plain English
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)
FDA & Trial Timeline
6 eventsSarah Schlegel — NA
Infectious Diseases Research Collaboration, Uganda
Boston University
Centre Hospitalier Universitaire Vaudois
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Diaphanospondylodysostosis.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 Diaphanospondylodysostosis.
Community
No community posts yet. Be the first to share your experience with Diaphanospondylodysostosis.
Start the conversation →Latest news about Diaphanospondylodysostosis
Disease timeline:
New recruiting trial: Breaking Silence Through Story: A Narrative Medicine Intervention for Parents of Children With Urogenital Conditions
A new clinical trial is recruiting patients for Diaphanospondylodysostosis
New recruiting trial: Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome
A new clinical trial is recruiting patients for Diaphanospondylodysostosis
New recruiting trial: Differentiated Service Delivery (DSD) for People Living with HIV (PLHIV) and Comorbidities
A new clinical trial is recruiting patients for Diaphanospondylodysostosis
New recruiting trial: Identifying New Genetic Causes to Development Disorders
A new clinical trial is recruiting patients for Diaphanospondylodysostosis
New recruiting trial: Minipuberty in Infants Born With Potential Hypogonadism Hypogonadotrope
A new clinical trial is recruiting patients for Diaphanospondylodysostosis
New recruiting trial: Data Collection Study of Pediatric and Adolescent Gynecology Conditions
A new clinical trial is recruiting patients for Diaphanospondylodysostosis
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 does my child's specific genetic mutation in the BMPER gene mean for their prognosis?,What supportive care options are available for my baby after birth?,What is the chance that a future pregnancy would be affected by this condition?,Can prenatal testing be done in future pregnancies to check for this condition?,Are there any clinical trials or research studies we should know about?,What palliative care and emotional support resources are available for our family?,Should other family members be tested to see if they are carriers of the BMPER gene change?
Common questions about Diaphanospondylodysostosis
What is Diaphanospondylodysostosis?
Diaphanospondylodysostosis (also sometimes called DSD) is an extremely rare and severe bone disorder that affects the spine and other parts of the skeleton before and after birth. The name comes from Greek and Latin words meaning 'transparent vertebrae,' which refers to how the bones of the spine appear unusually thin or underdeveloped on imaging. This condition is caused by changes (mutations) in the BMPER gene, which plays an important role in how bones form during early development. Babies born with this condition typically have very serious problems with their spine, including missing or
How is Diaphanospondylodysostosis inherited?
Diaphanospondylodysostosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Diaphanospondylodysostosis typically begin?
Typical onset of Diaphanospondylodysostosis is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Diaphanospondylodysostosis?
Yes — 2 recruiting clinical trials are currently listed for Diaphanospondylodysostosis on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Diaphanospondylodysostosis?
3 specialists and care centers treating Diaphanospondylodysostosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.