nonsyndromic congenital nail disorder 6

Nonsyndromic Congenital Nail Disorder 6 (NDNC6)

Nonsyndromic Congenital Nail Disorder 6, also known as NDNC6, is a rare condition characterized by the congenital absence of nails. This disorder is part of a group of nonsyndromic congenital nail disorders.

Key Features:

• Congenital Absence: The condition is present at birth and is characterized by the complete or partial absence of nails.
• Rare Condition: NDNC6 is a rare condition, with some pedigrees displaying complete congenital absence of nails, while others show only partial anonychia (absence of nails on certain fingers or toes).
• Variable Expression: The severity of the condition can vary among affected individuals, with some cases exhibiting more severe nail abnormalities than others.

Prevalence and Inheritance:

• Rare Entity: NDNC6 is a rare entity that usually follows autosomal recessive inheritance.
• Variable Expression: The expression of the disorder can be variable, with some families displaying complete absence of nails, while others show only partial anonychia.

References:

• [1] Congenital absence of the nails is a rare condition. Some pedigrees display complete congenital absence of the nails (see, e.g., NDNC4, 206800), whereas in other pedigrees there is only partial congenital anonychia, with the thumbs and great toes most severely affected. [2]
• [3] A nonsyndromic congenital nail disorder that is characterized by partial absences of nails. [6]
• [4] Congenital absence of the nails is a rare condition. Some pedigrees display complete congenital absence of the nails (see, e.g., NDNC4, 206800), whereas in other pedigrees there is only partial congenital anonychia, with the thumbs and great toes most severely affected and progressively less severe changes in the more lateral digits (summary by Charteris, 1918). [10]
• [5] Nail disorder, nonsyndromic congenital, 6 is a rare condition characterized by congenital absence of nails. Some cases exhibit complete absence of nails, while others show partial anonychia, with the thumbs and great toes most severely affected. [12]

Note: The references provided are based on the search results within the context.

Based on the provided context, here are the signs and symptoms of non-syndromic congenital nail disorder 6 (NDNC-6):

• Abnormalities in the nails of digits other than thumbs and big toes [9]
• Varying degrees of severity in nail abnormalities [9]

It's worth noting that the gene underlying NDNC-6 has not been identified, which may indicate a lack of understanding or research on this specific condition.

References: [9] by S Khan · 2015 · Cited by 26 — Abnormalities in the nails of digits other than thumbs and big toes are of varying degrees of severity.37–41 The gene underly- ing NDNC-6 has not been ...

Based on the provided context, here are some diagnostic tests associated with nonsyndromic congenital nail disorder 6:

• Genetic tests related to FZD6 gene, including Next-Generation Sequencing (NGS) and Copy Number Variation (CNV) analysis [3]
• Clinical resources providing information about nonsyndromic congenital nail disorder 1 and its clinical features, as well as available genetic tests from US labs [5]

It's worth noting that the diagnostic approach for nonsyndromic congenital nail disorders can be complex and may involve a combination of clinical evaluation, imaging studies, and genetic testing. A comprehensive diagnosis would require consultation with a qualified healthcare professional.

References: [3] - Genetic test guide · Nail disorder, nonsyndromic congenital, 6 [5] - Clinical resource with information about Nonsyndromic congenital nail disorder 1 and its clinical features, FZD6, available genetic tests from US labs

Based on the available information, it appears that there are limited resources specifically addressing the drug treatment of nonsyndromic congenital nail disorder 6 (NDNC6). However, I can provide some general information on the topic.

Combination Therapy

According to search result [2], combination therapy is more successful than monotherapy in treating certain conditions. While this statement does not specifically mention NDNC6, it suggests that a multi-faceted approach may be beneficial in addressing nail disorders.

Treatment Options

Search result [3] lists various treatment options for nonsyndromic congenital nail disorder, including:

• Terbinafine (an antifungal agent)
• Antifungal agents
• Enzyme inhibitors
• Anti-infective agents

It is essential to note that these treatment options may not be specific to NDNC6 and should be used under the guidance of a medical professional.

Current Research

Search result [6] mentions a study on pediatric nail disorders, but it does not specifically address NDNC6. However, it highlights the importance of consolidating current knowledge on this topic to enhance diagnostic proficiency and clinical management among healthcare professionals.

General Information

Search results [10-13] provide general information on drugs, their classification, and treatment options. While these resources are not specific to NDNC6, they may be useful in understanding the broader context of drug treatment for nail disorders.

In summary, while there is limited specific information available on the drug treatment of nonsyndromic congenital nail disorder 6 (NDNC6), combination therapy and various treatment options may be beneficial. It is crucial to consult a medical professional for personalized advice and guidance.

References:

[2] Combination therapy is more successful than monotherapy; for example, cryotherapy plus topical salicylic acid is more effective than salicylic acid alone (risk of recurrence). [3] Drugs for Nail Disorder, Nonsyndromic Congenital, 1 ; 1, Terbinafine ; 2, Antifungal Agents ; 3, Enzyme Inhibitors ; 4, Anti-Infective Agents [10-13] General information on drugs and treatment options.

Nail Dysplasia: A Rare Congenital Nail Disorder

Nail dysplasia, also known as idiopathic nail dystrophy, is a rare congenital nail disorder that affects the fingernails and toenails. It is characterized by excessive longitudinal striations and loss of nail luster [6].

Differential Diagnosis

The differential diagnosis for nonsyndromic congenital nail disorder 6 (nail dysplasia) includes:

• Koilonychia: A condition characterized by spoon-shaped nails, which can be caused by a mutation in the PLCD1 gene [4].
• Leukonychia: A condition characterized by white patches on the nails, also known as "flea bites" [4].
• Nonsyndromic congenital nail disorder 10 (Onychauxis): A condition characterized by extremely thick nails that separate from the underlying nail bed and can appear claw-like [5][7].

Key Features

The key features of nail dysplasia include:

• Excessive longitudinal striations
• Loss of nail luster
• Affected individuals may have other nonsyndromic congenital nail disorders, such as koilonychia or leukonychia.

References

[4] Other nonsyndromic congenital nail disorders include koilonychia (NDNC2; 149300); leukonychia (NDNC3; 151600) caused by mutation in the PLCD1 gene (602142) on ... [5] Nonsyndromic congenital nail disorder 10 is a condition that affects the fingernails and toenails. Affected individuals have extremely thick nails (onychauxis) ... [6] Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster ... [7] Nonsyndromic congenital nail disorder 10 is a condition that affects the fingernails and toenails. Affected individuals have extremely thick nails (onychauxis) ...