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Hypoplastic fifth toenail

MedGen UID:
Concept ID:
Anatomical Abnormality
Synonym: Hypoplastic fifth toenails
HPO: HP:0011937


Underdeveloped nails of the fifth toes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplastic fifth toenail

Conditions with this feature

Epidermolysis bullosa simplex with mottled pigmentation
MedGen UID:
Concept ID:
Congenital Abnormality
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.
Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
This syndrome is characterized by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).
Intellectual disability, autosomal dominant 27
MedGen UID:
Concept ID:
Disease or Syndrome
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) is characterized by mildly impaired intellectual development and microcephaly. Patients may also have ocular malformations, ocular apraxia, or hypogonadotropic hypogonadism. The disorder shows a unique DNA methylation signature (summary by Al-Jawahiri et al., 2022).
Coffin-Siris syndrome 7
MedGen UID:
Concept ID:
Disease or Syndrome
Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.
Intellectual disability, autosomal dominant 58
MedGen UID:
Concept ID:
Disease or Syndrome

Recent clinical studies


Lu G, Peng Q, Wu L, Zhang J, Ma L
BMC Med Genomics 2021 Nov 14;14(1):270. doi: 10.1186/s12920-021-01119-2. PMID: 34775996Free PMC Article
Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N
Nat Commun 2014 Jun 2;5:4011. doi: 10.1038/ncomms5011. PMID: 24886874
Mori PG, Priolo M, Lerone M, Pasino M, Caroli F, Cusano R, Seri M, Silengo MC
Am J Med Genet 1999 Nov 5;87(1):36-9. PMID: 10528244
Kirk EP, Wilson M
Clin Dysmorphol 1999 Jul;8(3):193-7. PMID: 10457853
Dignan PS, Martin LW, Zenni EJ Jr
Clin Genet 1986 Feb;29(2):168-73. doi: 10.1111/j.1399-0004.1986.tb01244.x. PMID: 3955870


Hanker B, Gillessen-Kaesbach G, Hüning I, Lüdecke HJ, Wieczorek D
Eur J Hum Genet 2022 Jan;30(1):126-132. Epub 2021 Mar 31 doi: 10.1038/s41431-021-00865-2. PMID: 33785884Free PMC Article
Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Dalal AB, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, Matsumoto N
Clin Genet 2014 Jun;85(6):548-54. Epub 2013 Jul 23 doi: 10.1111/cge.12225. PMID: 23815551
Savarirayan R, Thompson EM, Abbott KJ, Moore MH
Am J Med Genet 1999 Sep 3;86(1):15-9. doi: 10.1002/(sici)1096-8628(19990903)86:1<15::aid-ajmg4>3.0.co;2-i. PMID: 10440823
Spiegel PG, Pekman WM, Rich BH, Versteeg CN, Nelson V, Dudnikov M
Clin Orthop Relat Res 1979 Mar-Apr;(139):58-63. PMID: 455851


Sifontis NM, Coscia LA, Constantinescu S, Lavelanet AF, Moritz MJ, Armenti VT
Transplantation 2006 Dec 27;82(12):1698-702. doi: 10.1097/01.tp.0000252683.74584.29. PMID: 17198262
Pérgola PE, Kancharla A, Riley DJ
Transplantation 2001 Apr 15;71(7):994-7. doi: 10.1097/00007890-200104150-00028. PMID: 11349738


Lee BL, Oh SH, Jun KR, Hur YJ, Lee JE, Keum C, Chung WY
Ann Clin Lab Sci 2020 Jan;50(1):140-145. PMID: 32161024
Mori PG, Priolo M, Lerone M, Pasino M, Caroli F, Cusano R, Seri M, Silengo MC
Am J Med Genet 1999 Nov 5;87(1):36-9. PMID: 10528244

Clinical prediction guides

Lee ML, Sciorra LJ
Ann Genet 1981;24(1):51-3. PMID: 6971620
Spiegel PG, Pekman WM, Rich BH, Versteeg CN, Nelson V, Dudnikov M
Clin Orthop Relat Res 1979 Mar-Apr;(139):58-63. PMID: 455851

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