Dislocation of the hip-dysmorphism syndrome

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ORPHA:2412OMIM:601450Q87.2
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8Treatment centers

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Overview

Dislocation of the hip-dysmorphism syndrome is an extremely rare genetic condition that is present from birth. It is characterized by dislocation (displacement) of the hip joints along with distinctive facial and body features (dysmorphism). Affected individuals typically show hip instability or frank dislocation of one or both hips at birth, along with unusual facial features that may include a broad or flat face, a short nose, and other subtle differences in appearance. Additional skeletal abnormalities may be present, such as joint looseness (hyperlaxity), short stature, or other bone and joint problems. Some individuals may also have mild developmental delays or intellectual differences, though this varies from person to person. Because this syndrome is so rare, the medical understanding of it is limited. It was described in a small number of families, and the exact genetic cause has not been fully established. Treatment is mainly supportive and focuses on managing the hip dislocation through orthopedic interventions such as bracing, harnesses, or surgery, as well as addressing any other skeletal or developmental concerns. Early diagnosis and intervention by a team of specialists can help improve outcomes and quality of life. There is currently no cure for the underlying condition, so care is directed at treating symptoms and preventing complications.

Also known as:

Key symptoms:

Hip dislocation present at birthUnusual facial featuresShort statureLoose or overly flexible jointsBroad or flat faceShort noseSkeletal abnormalitiesPossible mild developmental delayLow muscle toneDifficulty walking or delayed walking

Clinical phenotype terms (20)— hover any for plain English
Congenital hip dislocationHP:0001374Abnormal tricuspid valve morphologyHP:0001702Deviation of fingerHP:0004097Prominence of the premaxillaHP:0010759Abnormal fontanelle morphologyHP:0011328
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Dislocation of the hip-dysmorphism syndrome.

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No actively recruiting trials found for Dislocation of the hip-dysmorphism syndrome at this time.

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No specialists are currently listed for Dislocation of the hip-dysmorphism syndrome.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Dislocation of the hip-dysmorphism syndrome.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What is the severity of my child's hip dislocation, and what treatment approach do you recommend?,Should we pursue genetic testing, and what might it tell us?,What developmental milestones should I watch for, and when should I be concerned?,How often will my child need orthopedic follow-up and imaging?,Are there any physical activities my child should avoid?,What early intervention services should we start, and how do we access them?,What is the chance of this condition occurring again in future pregnancies?

Common questions about Dislocation of the hip-dysmorphism syndrome

What is Dislocation of the hip-dysmorphism syndrome?

Dislocation of the hip-dysmorphism syndrome is an extremely rare genetic condition that is present from birth. It is characterized by dislocation (displacement) of the hip joints along with distinctive facial and body features (dysmorphism). Affected individuals typically show hip instability or frank dislocation of one or both hips at birth, along with unusual facial features that may include a broad or flat face, a short nose, and other subtle differences in appearance. Additional skeletal abnormalities may be present, such as joint looseness (hyperlaxity), short stature, or other bone and j

How is Dislocation of the hip-dysmorphism syndrome inherited?

Dislocation of the hip-dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Dislocation of the hip-dysmorphism syndrome typically begin?

Typical onset of Dislocation of the hip-dysmorphism syndrome is neonatal. Age of onset can vary across affected individuals.