Overview
Congenital bowing of long bones with short stature, dolichomacrocephaly, and ocular hypertelorism is an extremely rare skeletal condition that is present from birth. The name describes its main features: bones in the arms and legs that are curved or bowed at birth, a body length shorter than average (short stature), a head that is both longer than usual from front to back (dolichocephaly) and larger than average overall (macrocephaly), and eyes that are set wider apart than normal (hypertelorism). This condition is listed in Orphanet under code 2292 and is currently marked as 'obsolete,' meaning it may have been reclassified or merged with another diagnosis as medical understanding has improved. Because this condition is so rare and the classification has changed over time, detailed information about its cause, exact genetic basis, and long-term outlook is very limited. Most of what is known comes from a small number of reported cases. The bowing of the long bones often improves on its own as a child grows, but short stature and the distinctive head and facial features tend to persist. Management is generally supportive, focusing on monitoring bone development, growth, and any related complications rather than treating an underlying cause directly.
Key symptoms:
Curved or bowed bones in the arms and legs present at birthShorter than average height (short stature)Head that is longer than normal from front to back (dolichocephaly)Head that is larger than average overall (macrocephaly)Eyes set wider apart than usual (hypertelorism)Distinctive facial features noticeable at birth
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 OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism 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: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism 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.Is this diagnosis still current, or has it been reclassified under a different name?,Should we do genetic testing to find the underlying cause, and which tests do you recommend?,Will the bowing of the bones improve on its own as my child grows, or will treatment be needed?,What specialists should be part of my child's care team?,Are there any complications we should watch for as my child gets older?,What does this mean for future pregnancies and the risk of passing this condition to other children?,Are there any patient registries or research studies we could join to help advance understanding of this condition?
Common questions about OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome
What is OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome?
Congenital bowing of long bones with short stature, dolichomacrocephaly, and ocular hypertelorism is an extremely rare skeletal condition that is present from birth. The name describes its main features: bones in the arms and legs that are curved or bowed at birth, a body length shorter than average (short stature), a head that is both longer than usual from front to back (dolichocephaly) and larger than average overall (macrocephaly), and eyes that are set wider apart than normal (hypertelorism). This condition is listed in Orphanet under code 2292 and is currently marked as 'obsolete,' meani
At what age does OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome typically begin?
Typical onset of OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome is neonatal. Age of onset can vary across affected individuals.