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Inherited isolated nail anomaly

MedGen UID:
1843192
•Concept ID:
C5681477
•
Congenital Abnormality
Synonyms: Isolated nail anomaly; Nail disorder, nonsyndromic congenital
 
Monarch Initiative: MONDO:0019284
OMIM® Phenotypic series: PS161050
Orphanet: ORPHA79369

Definition

A nail anomaly that is not part of a larger syndrome. [from MONDO]

Recent clinical studies

Etiology

Congenital marked hypertrichosis and Laband syndrome in a child: overlap between the gingival fibromatosis-hypertrichosis and Laband syndromes.
Lacombe D, Bioulac-Sage P, Sibout M, Daussac E, Lesure F, Manchart JP, Battin J
Genet Couns 1994;5(3):251-6. PMID: 7811425

Diagnosis

Uncombable hair syndrome and beyond.
Alsabbagh MM
Acta Dermatovenerol Alp Pannonica Adriat 2022 Jun;31(2):49-64. PMID: 35751533
Onychomycosis, the Active Invasion of a Normal Nail Unit by a Dermatophytic Versus the Colonization of an Existing Abnormal Nail Unit by Environmental Fungus.
Zaias N, Escovar SX, Zaiac MN, Edwards R, Dutra M, Pona A, Rio ED, Jungcharoensukying P
Skinmed 2020;18(1):18-22. Epub 2020 Jan 1 PMID: 32167451
Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.
Mathorne SW, Ravn P, Hansen D, Beck-Nielsen SS, Gjørup H, Sørensen KP, Fagerberg CR
Clin Genet 2020 May;97(5):779-784. Epub 2020 Feb 24 doi: 10.1111/cge.13725. PMID: 32067224
Human telomeres and telomere biology disorders.
Savage SA
Prog Mol Biol Transl Sci 2014;125:41-66. doi: 10.1016/B978-0-12-397898-1.00002-5. PMID: 24993697
Triphalangeal thumb.
Qazi Q, Kassner EG
J Med Genet 1988 Aug;25(8):505-20. doi: 10.1136/jmg.25.8.505. PMID: 3050097Free PMC Article

Prognosis

Homozygous Missense Variant in the Solute Carrier Organic Anion Transporter 2A1 (SLCO2A1) Gene Underlies Isolated Nail Clubbing.
Umair M, Bilal M, Shah K, Said G, Ahmad F
Genes (Basel) 2023 Feb 8;14(2) doi: 10.3390/genes14020430. PMID: 36833358Free PMC Article
A mechanobullous disease of the newborn. Bart's syndrome.
Smith SZ, Cram DL
Arch Dermatol 1978 Jan;114(1):81-4. PMID: 339847

Clinical prediction guides

Homozygous Missense Variant in the Solute Carrier Organic Anion Transporter 2A1 (SLCO2A1) Gene Underlies Isolated Nail Clubbing.
Umair M, Bilal M, Shah K, Said G, Ahmad F
Genes (Basel) 2023 Feb 8;14(2) doi: 10.3390/genes14020430. PMID: 36833358Free PMC Article
Uncombable hair syndrome and beyond.
Alsabbagh MM
Acta Dermatovenerol Alp Pannonica Adriat 2022 Jun;31(2):49-64. PMID: 35751533
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.
Fröjmark AS, Schuster J, Sobol M, Entesarian M, Kilander MBC, Gabrikova D, Nawaz S, Baig SM, Schulte G, Klar J, Dahl N
Am J Hum Genet 2011 Jun 10;88(6):852-860. doi: 10.1016/j.ajhg.2011.05.013. PMID: 21665003Free PMC Article
Isolated congenital nail dysplasia: a new autosomal dominant condition.
Hamm H, Karl S, Bröcker EB
Arch Dermatol 2000 Oct;136(10):1239-43. doi: 10.1001/archderm.136.10.1239. PMID: 11030770
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32.
Lees MM, Winter RM, Malcolm S, Saal HM, Chitty L
J Med Genet 1999 Dec;36(12):888-92. PMID: 10593995Free PMC Article

Supplemental Content

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