OBSOLETE: Short stature-prognathism-short femoral necks syndrome

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ORPHA:2864
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Overview

Short stature-prognathism-short femoral necks syndrome is an extremely rare condition that has been described in medical literature but is now classified as obsolete in the Orphanet database, meaning it may have been reclassified, merged with another condition, or its original description may no longer be considered a distinct syndrome. The condition was originally characterized by a combination of short stature (being significantly shorter than expected for age and sex), prognathism (a protruding or prominent lower jaw), and short femoral necks (the part of the thigh bone connecting the ball of the hip joint to the shaft of the bone is shorter than normal). These skeletal features could affect a person's appearance, mobility, and overall bone health. Because this condition is obsolete in current medical classifications, patients who were previously diagnosed with this syndrome may now fall under a different or broader diagnostic category. Very little published information exists about this condition, and the genetic cause, if any, has not been clearly established. Anyone who has received this diagnosis should consult with a clinical geneticist to determine whether a more current diagnosis applies and what follow-up care may be appropriate.

Key symptoms:

Short stature or being much shorter than expectedProtruding or prominent lower jawShort femoral necks (shortened part of the thigh bone near the hip)Possible hip joint problemsSkeletal abnormalitiesPossible limited range of motion in the hips

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Short stature-prognathism-short femoral necks syndrome.

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No actively recruiting trials found for OBSOLETE: Short stature-prognathism-short femoral necks syndrome at this time.

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No specialists are currently listed for OBSOLETE: Short stature-prognathism-short femoral necks syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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 OBSOLETE: Short stature-prognathism-short femoral necks syndrome.

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Community

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Latest news about OBSOLETE: Short stature-prognathism-short femoral necks syndrome

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Since this diagnosis is now considered obsolete, what is the most current name or classification for my condition?,Should I undergo updated genetic testing to look for a specific cause?,How should we monitor my hip joints for potential problems over time?,Would growth hormone therapy be appropriate for the short stature?,Are there any surgical options to address the jaw prominence if it causes functional problems?,What physical activities are safe given the short femoral necks?,Are there any related conditions I should be screened for?

Common questions about OBSOLETE: Short stature-prognathism-short femoral necks syndrome

What is OBSOLETE: Short stature-prognathism-short femoral necks syndrome?

Short stature-prognathism-short femoral necks syndrome is an extremely rare condition that has been described in medical literature but is now classified as obsolete in the Orphanet database, meaning it may have been reclassified, merged with another condition, or its original description may no longer be considered a distinct syndrome. The condition was originally characterized by a combination of short stature (being significantly shorter than expected for age and sex), prognathism (a protruding or prominent lower jaw), and short femoral necks (the part of the thigh bone connecting the ball

At what age does OBSOLETE: Short stature-prognathism-short femoral necks syndrome typically begin?

Typical onset of OBSOLETE: Short stature-prognathism-short femoral necks syndrome is childhood. Age of onset can vary across affected individuals.