Isolated congenital onychodysplasia

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ORPHA:79144OMIM:605779Q84.6
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Overview

Isolated congenital onychodysplasia (ICO) is a rare condition that affects the nails, most often the nails of the fingers. It is sometimes called 'congenital nail dysplasia' or 'Iso-Kikuchi syndrome,' named after the doctors who first described it. In this condition, one or more nails grow in an abnormal way from birth or very early in life. The nails may be very small, missing, split, curved, or have an unusual shape or texture. The little finger (fifth finger) is most commonly affected, but other fingers can be involved too. Toenails are rarely affected. The condition is present at birth or becomes noticeable in the first months of life. It is called 'isolated' because it affects only the nails and is not linked to problems with other organs or body systems. Most people with ICO are otherwise healthy. The underlying cause is not fully understood, but it is thought to involve abnormal development of the nail bed and surrounding tissue during pregnancy. There is no cure for isolated congenital onychodysplasia, but the condition is generally not painful or dangerous. Treatment focuses on managing the appearance of the nails and preventing any discomfort or infection. In some cases, minor surgical procedures can improve the look and function of the affected nails. Regular follow-up with a dermatologist or hand specialist is recommended.

Also known as:

Key symptoms:

Abnormally small nails on one or more fingersMissing nails on one or more fingersSplit or divided nailsCurved or pincer-shaped nailsNails with an unusual texture or ridgesNails that do not grow normallyNarrow or underdeveloped nail bedNails that partially separate from the nail bedDiscoloration of affected nailsAsymmetric nail involvement (one hand more than the other)

Clinical phenotype terms (22)— hover any for plain English
Thin nailHP:0001816Bifid nailHP:0010793Absent lunulaHP:0030805Toenail dysplasiaHP:0100797Fingernail dysplasiaHP:0100798Concave nailHP:0001598Small nailHP:0001792Abnormal finger phalanx morphologyHP:0005918Onychogryphosis of toenailsHP:0008401Partial duplication of the distal phalanx of the 2nd fingerHP:0009951Narrow nailHP:0011313PlatonychiaHP:0030803Malalignment of the great toenailHP:0031282Onychogryphosis of fingernailHP:0040036OnychomycosisHP:0012203Ingrown nailHP:0012710
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

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 Isolated congenital onychodysplasia.

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No actively recruiting trials found for Isolated congenital onychodysplasia at this time.

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Search ClinicalTrials.gov ↗Join the Isolated congenital onychodysplasia community →

No specialists are currently listed for Isolated congenital onychodysplasia.

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 Isolated congenital onychodysplasia.

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Community

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Questions for your doctor

Bring these to your next appointment

  • Q1.Which fingers are affected and why do some nails look different from others?,Do I need any genetic testing to confirm the diagnosis or rule out other conditions?,Is there any treatment that could improve the appearance or function of the affected nails?,What signs of infection should I watch for, and when should I seek medical attention?,Will the nail abnormalities stay the same, or could they change as my child grows?,Are there any other specialists I should see, such as a hand surgeon or plastic surgeon?,Is there a risk that other family members or future children could be affected?

Common questions about Isolated congenital onychodysplasia

What is Isolated congenital onychodysplasia?

Isolated congenital onychodysplasia (ICO) is a rare condition that affects the nails, most often the nails of the fingers. It is sometimes called 'congenital nail dysplasia' or 'Iso-Kikuchi syndrome,' named after the doctors who first described it. In this condition, one or more nails grow in an abnormal way from birth or very early in life. The nails may be very small, missing, split, curved, or have an unusual shape or texture. The little finger (fifth finger) is most commonly affected, but other fingers can be involved too. Toenails are rarely affected. The condition is present at birth or

How is Isolated congenital onychodysplasia inherited?

Isolated congenital onychodysplasia follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Isolated congenital onychodysplasia typically begin?

Typical onset of Isolated congenital onychodysplasia is neonatal. Age of onset can vary across affected individuals.