Rare diseases · Sign or symptom
Abnormal toenail morphology
Abnormality of the toenail
HP:0008388
What it means
An anomaly of the toenail.
Rare diseases that can present with this30
Very common80–99%
15- Acrocraniofacial dysostosis
- Acrofacial dysostosis, Weyers type
- Acromelic frontonasal dysplasia
- Autosomal recessive hypohidrotic ectodermal dysplasia
- Charlie M syndrome
- Choroidal atrophy-alopecia syndrome
- Chronic mucocutaneous candidiasis
- Cranioectodermal dysplasia
- Deafness-enamel hypoplasia-nail defects syndrome
- DOORS syndrome
- Ectodermal dysplasia, trichoodontoonychial type
- Hidrotic ectodermal dysplasia, Halal type
- Leukonychia totalis
- Lymphedema with yellow nails
- Palmoplantar keratoderma-spastic paralysis syndrome
Common30–79%
10- Alopecia-contractures-dwarfism-intellectual disability syndrome
- Autosomal recessive generalized epidermolysis bullosa simplex
- Cataract-intellectual disability-hypogonadism syndrome
- Cooks syndrome
- Hereditary orotic aciduria
- Hypospadias-intellectual disability, Goldblatt type syndrome
- Kindler epidermolysis bullosa
- Localized dystrophic epidermolysis bullosa, pretibial form
- Microcephaly-chorioretinopathy-lymphedema syndrome
- Somatomammotropinoma
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Abnormality of the toenails
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.