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Toenail dysplasia

MedGen UID:
Concept ID:
Synonym: Dysplastic toenails
HPO: HP:0100797


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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVToenail dysplasia

Conditions with this feature

Camptosynpolydactyly, complex
MedGen UID:
Concept ID:
Congenital Abnormality
Phelan-McDermid syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Phelan-McDermid syndrome is characterized by neonatal hypotonia, absent to severely delayed speech, developmental delay, and minor dysmorphic facial features. Most affected individuals have moderate to profound intellectual disability. Other features include large fleshy hands, dysplastic toenails, and decreased perspiration that results in a tendency to overheat. Normal stature and normal head size distinguishes Phelan-McDermid syndrome from other autosomal chromosome disorders. Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder or autistic-like affect and behavior.
Adams-Oliver syndrome 4
MedGen UID:
Concept ID:
Disease or Syndrome
Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.
Intellectual disability, X-linked, syndromic 33
MedGen UID:
Concept ID:
Disease or Syndrome
X-linked syndromic intellectual developmental disorder-33 (MRXS33) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).
Lymphatic malformation 4
MedGen UID:
Concept ID:
Disease or Syndrome
Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
MedGen UID:
Concept ID:
Disease or Syndrome

Professional guidelines


Mariath LM, Santin JT, Frantz JA, Doriqui MJR, Schuler-Faccini L, Kiszewski AE
Clin Genet 2021 Jan;99(1):29-41. Epub 2020 Jun 29 doi: 10.1111/cge.13792. PMID: 32506467
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: 30703280Free PMC Article
Fleming L, Lemmon M, Beck N, Johnson M, Mu W, Murdock D, Bodurtha J, Hoover-Fong J, Cohn R, Bosemani T, Barañano K, Hamosh A
Am J Med Genet A 2016 Jan;170A(1):77-86. Epub 2015 Sep 23 doi: 10.1002/ajmg.a.37369. PMID: 26394714Free PMC Article

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