Rare diseases · Sign or symptom
Abnormal fingernail morphology
Abnormal fingernails
HP:0001231
What it means
An abnormality of the fingernails.
Rare diseases that can present with this68
Very common80–99%
29- Acrocraniofacial dysostosis
- Acrofacial dysostosis, Weyers type
- Amelo-onycho-hypohidrotic syndrome
- Autosomal recessive hypohidrotic ectodermal dysplasia
- Brachydactyly-elbow wrist dysplasia syndrome
- Charlie M syndrome
- Choroidal atrophy-alopecia syndrome
- Chronic mucocutaneous candidiasis
- Costello syndrome
- Cranioectodermal dysplasia
- Cronkhite-Canada syndrome
- Deafness-enamel hypoplasia-nail defects syndrome
- DOORS syndrome
- Dyskeratosis congenita
- Ellis-Van Creveld syndrome
- Epidermolysis bullosa simplex with anodontia/hypodontia
- Focal palmoplantar and gingival keratoderma
- Hidrotic ectodermal dysplasia, Halal type
- Hypodontia-dysplasia of nails syndrome
- Intellectual disability, Buenos-Aires type
- Leukonychia totalis
- Lymphedema with yellow nails
- Mutilating palmoplantar keratoderma with periorificial keratotic plaques
- Odonto-onycho dysplasia-alopecia syndrome
- Palmoplantar keratoderma-spastic paralysis syndrome
- Papillon-Lefèvre syndrome
- Paraplegia-intellectual disability-hyperkeratosis syndrome
- Ulnar-mammary syndrome
- Weaver syndrome
Common30–79%
22- Autosomal dominant hypocalcemia
- Autosomal dominant hypohidrotic ectodermal dysplasia
- Autosomal recessive generalized epidermolysis bullosa simplex
- Brachydactyly-preaxial hallux varus syndrome
- Brachydactyly type C
- Corneodermatoosseous syndrome
- Craniofrontonasal dysplasia-Poland anomaly syndrome
- Epidermolytic palmoplantar keratoderma
- Hajdu-Cheney syndrome
- Hypoglossia-hypodactyly syndrome
- Hypospadias-intellectual disability, Goldblatt type syndrome
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
- Lichen planopilaris
- Localized dystrophic epidermolysis bullosa, pretibial form
- Non-distal duplication 13q syndrome
- Oculodentodigital dysplasia
- Pachydermoperiostosis
- Prolidase deficiency
- Scalp-ear-nipple syndrome
- Schneckenbecken dysplasia
- Somatomammotropinoma
- Williams syndrome
Sometimes5–29%
16- Acquired idiopathic sideroblastic anemia
- Allergic bronchopulmonary aspergillosis
- Aminopterin/methotrexate embryofetopathy
- Arthrogryposis multiplex congenita-whistling face syndrome
- Camptobrachydactyly
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Distal deletion 10p syndrome
- Dowling-Degos disease
and 8 more in this range
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, and Orphanet separately records 1 disease where this sign is specifically absent. 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 fingernails
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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.