OBSOLETE: Sparse hair-short stature-skin anomalies syndrome

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ORPHA:79132
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Overview

Sparse hair-short stature-skin anomalies syndrome is a rare condition that was previously listed in medical databases but has since been marked as 'obsolete' in Orphanet (the international rare disease registry). This means the condition as originally described may have been reclassified, merged with another diagnosis, or found to overlap significantly with a better-defined syndrome. The core features suggested by the name include unusually thin or sparse hair, shorter-than-average height (short stature), and various skin changes or abnormalities. These types of features together are sometimes grouped under conditions called ectodermal dysplasias, which affect tissues that develop from the outer layer of the embryo — including skin, hair, nails, and teeth. Because this specific entry is now considered obsolete, patients who were given this diagnosis may benefit from re-evaluation using current diagnostic criteria and modern genetic testing. A clinical geneticist can help determine whether a more precise diagnosis is now available, which could open doors to better-targeted care and support resources.

Key symptoms:

Sparse or thin hair on the scalpShorter than average height for ageUnusual skin texture or appearancePossible nail abnormalitiesPossible dental irregularitiesDry or fragile skinSlow hair growth

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Sparse hair-short stature-skin anomalies syndrome.

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No actively recruiting trials found for OBSOLETE: Sparse hair-short stature-skin anomalies syndrome at this time.

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No specialists are currently listed for OBSOLETE: Sparse hair-short stature-skin anomalies 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: Sparse hair-short stature-skin anomalies syndrome.

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Community

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Latest news about OBSOLETE: Sparse hair-short stature-skin anomalies syndrome

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Caregiver Resources

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Mental Health Support

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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.Since this diagnosis is now considered obsolete, what current condition might best describe my symptoms?,Should I have updated genetic testing such as whole exome sequencing?,Are there specialists in ectodermal dysplasia who could evaluate me?,What can be done to manage my hair, skin, and growth concerns right now?,Are there clinical trials or research studies I might qualify for?,What support organizations exist for conditions similar to mine?,How will my condition change as I get older, and what should I watch for?

Common questions about OBSOLETE: Sparse hair-short stature-skin anomalies syndrome

What is OBSOLETE: Sparse hair-short stature-skin anomalies syndrome?

Sparse hair-short stature-skin anomalies syndrome is a rare condition that was previously listed in medical databases but has since been marked as 'obsolete' in Orphanet (the international rare disease registry). This means the condition as originally described may have been reclassified, merged with another diagnosis, or found to overlap significantly with a better-defined syndrome. The core features suggested by the name include unusually thin or sparse hair, shorter-than-average height (short stature), and various skin changes or abnormalities. These types of features together are sometimes

At what age does OBSOLETE: Sparse hair-short stature-skin anomalies syndrome typically begin?

Typical onset of OBSOLETE: Sparse hair-short stature-skin anomalies syndrome is neonatal. Age of onset can vary across affected individuals.