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nonsyndromic congenital nail disorder 2
Description
Nonsyndromic Congenital Nail Disorder 2: Definition and Characteristics
Nonsyndromic congenital nail disorder 2, also known as koilonychia or 'spoon nails,' is a rare condition characterized by abnormally thin and concave nails from side to side, with turned up edges [8][9][10]. This condition can occur in isolation or as part of several genetic syndromes [7].
Key Features:
- Abnormally thin nails
- Concave shape from side to side
- Turned up edges
- Can affect single or multiple nails
Prevalence and Causes: While the exact prevalence of nonsyndromic congenital nail disorder 2 is unknown, it is considered a rare condition. The causes of this condition are not well understood, but it may be related to genetic mutations or environmental factors [7].
References:
[1] Not applicable (this information was not provided in the context)
[7] Oct 9, 2023 - This condition can occur in isolation (nonsyndromic congenital nail disorders) or as a component of several genetic syndromes (eg, nail-patella syndrome, ...
[8] nonsyndromic congenital nail disorder 2. Term ID: DOID:0080080; Synonyms. Definition: A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges.
[9] A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges.
[10] A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges. Parent:.
Additional Characteristics
- abnormally thin and concave nails
- turned up edges
Signs and Symptoms
Nonsyndromic Congenital Nail Disorder (NSCND) Signs and Symptoms
Individuals with NSCND may exhibit a range of nail abnormalities, including:
- Thick nails: Extremely thick nails that separate from the underlying nail bed (onychauxis) and can appear claw-like [1][2]
- Koilonychia (spoon nails): Transient, light brown or ocher pigmentation of the proximal nail fold, Beau lines of the fingernails, and transient, longitudinal ridges on the nails [3]
- Claw-shaped nails: Hyperpigmented nails with subungual hyperkeratosis [4]
- Nail absence or hypoplasia: Absence or underdevelopment of one or more nails [5][6]
- Ridged or pitted nails: Longitudinal or horizontal ridges, and/or pits on the surface of the nails [5][7]
- Discolored nails: Nails that are abnormally colored, such as white, yellow, or brown [5]
These symptoms can occur in single or multiple fingers and/or toes, and may be associated with other nail abnormalities [6].
Additional Symptoms
- Thick nails
- Koilonychia (spoon nails)
- Claw-shaped nails
- Nail absence or hypoplasia
- Ridged or pitted nails
- Discolored nails
Diagnostic Tests
Based on the provided context, it appears that nonsyndromic congenital nail disorder 2 (NDNC2) is also known as koilonychia or spoon-shaped nails.
Diagnostic Tests:
- Full gene sequencing panel for NDNC2 may be considered to confirm the diagnosis.
- Physical examination of the nails to observe the characteristic spoon-shaped appearance.
- Medical history and family history to rule out other potential causes of nail abnormalities.
- Genetic testing may be recommended if there is a family history of similar conditions or if the disorder is suspected to be inherited.
Note: The diagnostic process for NDNC2 may involve a combination of these tests, and the specific approach may vary depending on individual circumstances. It's essential to consult with a qualified physician for accurate diagnosis and guidance.
Citations: * [3] - Knowledge of the molecular developmental pathways of nail growth and morphogenesis is relatively limited. * [10] - Koilonychia or 'spoon nails' is a relatively uncommon disorder in which the nails are abnormally thin and concave from side to side, with the edges turned up. * [12] - The nail primordia at the ends of the fingers and toes come into being from the 8th and 9th weeks of gestation onward; in the 13th week, the nail field and the nail matrix are formed.
Additional Diagnostic Tests
- Full gene sequencing panel for NDNC2
- Physical examination of the nails to observe the characteristic spoon-shaped appearance.
- Medical history and family history to rule out other potential causes of nail abnormalities.
- Genetic testing may be recommended if there is a family history of similar conditions or if the disorder is suspected to be inherited.
Treatment
Based on the provided context, it appears that there are various treatments available for nonsyndromic congenital nail disorders, including medical and home remedy options.
- Antifungal Agents: According to search result [4], antifungal agents are listed as a treatment option for nonsyndromic congenital nail disorder. This suggests that fungal infections may be a contributing factor in some cases of this condition.
- Enzyme Inhibitors: Search result [4] also lists enzyme inhibitors as a treatment option, although the specific enzymes targeted and their relevance to nonsyndromic congenital nail disorder 2 are not specified.
It's worth noting that search result [9] mentions that there isn't standard treatment for onychauxis (a condition affecting the fingernails and toenails), which may be related to nonsyndromic congenital nail disorder 2. However, this does not necessarily mean that antifungal agents or enzyme inhibitors are not effective treatments.
In conclusion, while specific details about drug treatment for nonsyndromic congenital nail disorder 2 are limited in the provided context, it appears that antifungal agents and enzyme inhibitors may be considered as potential treatment options. Further research would be necessary to confirm their efficacy and safety in treating this condition.
References: [4] Drugs for Nail Disorder, Nonsyndromic Congenital, 1 ; 1, Terbinafine ; 2, Antifungal Agents ; 3, Enzyme Inhibitors ; 4, Anti-Infective Agents [9] Jun 22, 2018 — Treatment for onychauxis falls into two main categories: medical treatments and home remedy options. There isn't standard treatment for this ...
Recommended Medications
- Antifungal Agents
- Enzyme Inhibitors
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis for nonsyndromic congenital nail disorder 2 (NDNC2) includes koilonychia, also known as spoon-shaped nails. This condition is characterized by a concave or spoon-like shape of the nails, which can be caused by a mutation in the PLCD1 gene [4].
Other conditions that may be considered in the differential diagnosis for NDNC2 include:
- Leukonychia: A condition where white patches or spots appear on the nails, often due to trauma or nail plate damage.
- Nail disorders such as psoriasis unguium, lichen ruber, and yellow nail syndrome [5].
- Tumors affecting the nails.
It's worth noting that NDNC2 is a rare disease, and a diagnosis should be made by a qualified healthcare professional based on a thorough medical evaluation and diagnostic testing.
Additional Differential Diagnoses
- Leukonychia
- koilonychia
- psoriasis unguium
- tumors affecting the nails
- yellow nail syndrome
- lichen disease
Additional Information
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- https://w3id.org/def/predibionto#has_symptom_2456
- owl#annotatedSource
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- 2015-11-09T15:18:20Z
- oboInOwl#id
- DOID:0080080
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- oboInOwl#hasDbXref
- MIM:149300
- IAO_0000115
- A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges.
- rdf-schema#label
- nonsyndromic congenital nail disorder 2
- rdf-schema#subClassOf
- t349929
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
- RO_0004019
- http://purl.obolibrary.org/obo/HP_0001197
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.