Fingernail dysplasia

MedGen UID:: 866606
•Concept ID:: C4020952
•: Disease or Syndrome

Synonym:	Dysplastic fingernails

HPO:	HP:0100798

Definition

An abnormality of the development of the fingernails. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFingernail dysplasia

Phenotypic abnormality
- Abnormality of the integument
  - Abnormal skin adnexa morphology
    - Abnormality of the nail
      - Nail dysplasia
        Fingernail dysplasia

Conditions with this feature

Craniosynostosis and dental anomalies

MedGen UID:: 481703
•Concept ID:: C3280073
•: Disease or Syndrome

CRSDA is an autosomal recessive disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly (summary by Nieminen et al., 2011).

See: Condition Record

Craniosynostosis and dental anomalies

Professional guidelines

PubMed

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.

Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI
Am J Med Genet A 2019 Mar;179(3):442-447. Epub 2019 Jan 31 doi: 10.1002/ajmg.a.61045. PMID: 30703280 Free PMC Article

Diagnosis and management of hair loss in children.

Castelo-Soccio L
Curr Opin Pediatr 2016 Aug;28(4):483-9. doi: 10.1097/MOP.0000000000000376. PMID: 27214199

Treatment of pachyonychia congenita.

Milstone LM, Fleckman P, Leachman SA, Leigh IM, Paller AS, van Steensel MA, Swartling C
J Investig Dermatol Symp Proc 2005 Oct;10(1):18-20. doi: 10.1111/j.1087-0024.2005.10203.x. PMID: 16250205

See all (20)

Recent clinical studies

Etiology

Nail-patella syndrome: report of 11 pediatric cases.

Figueroa-Silva O, Vicente A, Agudo A, Baliu-Piqué C, Gómez-Armayones S, Aldunce-Soto MJ, Inarejos Clemente EJ, Navallas Irujo M, Gutiérrez de la Iglesia D, González-Enseñat MA
J Eur Acad Dermatol Venereol 2016 Sep;30(9):1614-7. Epub 2016 Apr 25 doi: 10.1111/jdv.13683. PMID: 27109743

Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome.

Itin PH, Eich G, Fistarol SK
Dermatology 2006;213(2):153-5. doi: 10.1159/000093857. PMID: 16902295

See all (2)