U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Syndromic nail anomaly

MedGen UID:
1843307
•Concept ID:
C5681480
•
Congenital Abnormality
Orphanet: ORPHA79370

Professional guidelines

PubMed

Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.
Prasasya R, Grotheer KV, Siracusa LD, Bartolomei MS
Hum Mol Genet 2020 Sep 30;29(R1):R107-R116. doi: 10.1093/hmg/ddaa133. PMID: 32592473Free PMC Article
MSX1 mutations and associated disease phenotypes: genotype-phenotype relations.
Liang J, Von den Hoff J, Lange J, Ren Y, Bian Z, Carels CE
Eur J Hum Genet 2016 Dec;24(12):1663-1670. Epub 2016 Jul 6 doi: 10.1038/ejhg.2016.78. PMID: 27381090Free PMC Article
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
Campeau PM, Hennekam RC; DOORS syndrome collaborative group
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):327-32. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31412. PMID: 25169651

Recent clinical studies

Etiology

Nonmalignant Adult Thoracic Lymphatic Disorders.
Itkin M, McCormack FX
Clin Chest Med 2016 Sep;37(3):409-20. doi: 10.1016/j.ccm.2016.04.004. PMID: 27514588
Genetic hair and nail disorders.
Sprecher E
Clin Dermatol 2005 Jan-Feb;23(1):47-55. doi: 10.1016/j.clindermatol.2004.09.009. PMID: 15708289
Selenium in uremia.
Bonomini M, Albertazzi A
Artif Organs 1995 May;19(5):443-8. doi: 10.1111/j.1525-1594.1995.tb02357.x. PMID: 7625925
Metaphyseal chondrodysplasia.
Spranger JW
Postgrad Med J 1977 Aug;53(622):480-7. doi: 10.1136/pgmj.53.622.480. PMID: 335375Free PMC Article
Heterogeneity in gingival fibromatosis.
Witkop CJ Jr
Birth Defects Orig Artic Ser 1971 Jun;7(7):210-21. PMID: 4950923

Diagnosis

Genetics of patella hypoplasia/agenesis.
Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497
Oculodentodigital dysplasia.
Doshi DC, Limdi PK, Parekh NV, Gohil NR
Indian J Ophthalmol 2016 Mar;64(3):227-30. doi: 10.4103/0301-4738.180191. PMID: 27146935Free PMC Article
Neurodermatology.
Neau JP, Godeneche G, Mathis S, Guillet G
Handb Clin Neurol 2014;121:1561-94. doi: 10.1016/B978-0-7020-4088-7.00104-8. PMID: 24365436
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
Metaphyseal chondrodysplasia.
Spranger JW
Postgrad Med J 1977 Aug;53(622):480-7. doi: 10.1136/pgmj.53.622.480. PMID: 335375Free PMC Article

Therapy

Open toe sandals syndrome.
Borman AM, Johnson EM
BMJ 2016 Dec 15;355:i6496. doi: 10.1136/bmj.i6496. PMID: 27979822
Dyskeratosis congenita.
Gupta V, Kumar A
Adv Exp Med Biol 2010;685:215-9. doi: 10.1007/978-1-4419-6448-9_20. PMID: 20687509
Fetal warfarin syndrome.
Sathienkijkanchai A, Wasant P
J Med Assoc Thai 2005 Nov;88 Suppl 8:S246-50. PMID: 16856447
Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.
Itin PH, Sarasin A, Pittelkow MR
J Am Acad Dermatol 2001 Jun;44(6):891-920; quiz 921-4. doi: 10.1067/mjd.2001.114294. PMID: 11369901
Biochemical and molecular teratology of fetal hydantoin syndrome.
Buehler BA, Rao V, Finnell RH
Neurol Clin 1994 Nov;12(4):741-8. PMID: 7845340

Prognosis

Nail disorders to be kept in mind.
Arnal C, Richert B
Hand Surg Rehabil 2024 Apr;43S:101640. Epub 2024 Jan 10 doi: 10.1016/j.hansur.2024.101640. PMID: 38215878
Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes.
Sun Q, Wine Lee L, Hall EK, Choate KA, Elder RW
Pediatr Dermatol 2021 Jan;38(1):31-38. Epub 2020 Dec 4 doi: 10.1111/pde.14478. PMID: 33275305
Nail irregularities associated with Sézary syndrome.
Park K, Reed J, Talpur R, Duvic M
Cutis 2019 Apr;103(4):E11-E16. PMID: 31116823
Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family.
Tubaigy SM, Hassan HM
J Forensic Sci 2014 Mar;59(2):555-8. Epub 2013 Nov 21 doi: 10.1111/1556-4029.12316. PMID: 24261749
Genetic hair and nail disorders.
Sprecher E
Clin Dermatol 2005 Jan-Feb;23(1):47-55. doi: 10.1016/j.clindermatol.2004.09.009. PMID: 15708289

Clinical prediction guides

Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes.
Sun Q, Wine Lee L, Hall EK, Choate KA, Elder RW
Pediatr Dermatol 2021 Jan;38(1):31-38. Epub 2020 Dec 4 doi: 10.1111/pde.14478. PMID: 33275305
Genetics of patella hypoplasia/agenesis.
Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497
MSX1 gene in the etiology orofacial deformities.
Paradowska-Stolarz A
Postepy Hig Med Dosw (Online) 2015 Dec 31;69:1499-504. PMID: 27259221
Nails in systemic disease.
Singh G
Indian J Dermatol Venereol Leprol 2011 Nov-Dec;77(6):646-51. doi: 10.4103/0378-6323.86472. PMID: 22016270
Capillaroscopy.
Cutolo M, Pizzorni C, Secchi ME, Sulli A
Best Pract Res Clin Rheumatol 2008 Dec;22(6):1093-108. doi: 10.1016/j.berh.2008.09.001. PMID: 19041079

Recent systematic reviews

Hand ultrasound patterns in rheumatoid and psoriatic arthritis: the role of ultrasound in the differential diagnosis.
Sapundzhieva T, Karalilova R, Batalov A
Rheumatol Int 2020 Jun;40(6):837-848. Epub 2020 Mar 24 doi: 10.1007/s00296-020-04559-8. PMID: 32211929
Raynaud's syndrome in children: systematic review and development of recommendations for assessment and monitoring.
Pain CE, Constantin T, Toplak N, Moll M, Iking-Konert C, Piotto DP, Aktay Ayaz N, Nemcova D, Hoeger PH, Cutolo M, Smith V, Foeldvari I; Paediatric Rheumatology European Society (PRES) Juvenile Scleroderma Working Group.
Clin Exp Rheumatol 2016 Sep-Oct;34 Suppl 100(5):200-206. Epub 2016 Jul 27 PMID: 27494080

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...