Rare diseases · Sign or symptom
Nail dystrophy
Poor nail formation
HP:0008404
What it means
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use.
Rare diseases that can present with this70
Very common80–99%
20- Acrofacial dysostosis, Weyers type
- Acrokeratosis verruciformis of Hopf
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- Autosomal dominant palmoplantar keratoderma and congenital alopecia
- Autosomal recessive palmoplantar keratoderma and congenital alopecia
- Bazex syndrome
- Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- Chondroectodermal dysplasia with night blindness
- Dermotrichic syndrome
- Dyskeratosis congenita
- Ectodermal dysplasia-skin fragility syndrome
- EEC syndrome
- Focal dermal hypoplasia
- Hereditary acrokeratotic poikiloderma
- Hidrotic ectodermal dysplasia, Christianson-Fourie type
- Idiopathic trachyonychia
- Lamellar ichthyosis
- Localized dystrophic epidermolysis bullosa, nails only
- Pachyonychia congenita
Common30–79%
30- Autosomal dominant generalized dystrophic epidermolysis bullosa
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- Chronic graft versus host disease
- Cleft lip/palate-ectodermal dysplasia syndrome
- Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- Dystrophic epidermolysis bullosa pruriginosa
- Epidermolysis bullosa simplex with mottled pigmentation
- Hereditary bullous dystrophy, macular type
- Hidrotic ectodermal dysplasia
- Hoyeraal-Hreidarsson syndrome
- Ichthyosis hystrix of Curth-Macklin
- Incontinentia pigmenti
- Intermediate generalized junctional epidermolysis bullosa
- Junctional epidermolysis bullosa inversa
- KID syndrome
- Laryngo-onycho-cutaneous syndrome
- Late-onset junctional epidermolysis bullosa
- Lelis syndrome
- Localized dystrophic epidermolysis bullosa, pretibial form
- Localized junctional epidermolysis bullosa
- Mandibuloacral dysplasia with type B lipodystrophy
- Naegeli-Franceschetti-Jadassohn syndrome
- Papillon-Lefèvre syndrome
- Pili torti-onychodysplasia syndrome
- Recessive dystrophic epidermolysis bullosa inversa
- Revesz syndrome
- Self-improving dystrophic epidermolysis bullosa
- Sézary syndrome
- Tangier disease
- X-linked intellectual disability, Golabi-Ito-Hall type
Sometimes5–29%
16- 21q22.11q22.12microdeletion syndrome
- Apert syndrome
- Autoimmune polyendocrinopathy type 1
- Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
- Bathing suit ichthyosis
- Epidermolysis bullosa acquisita
- Epidermolysis bullosa simplex with pyloric atresia
- Hypohidrotic ectodermal dysplasia with immunodeficiency
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: Dystrophic nails · Onychodystrophy
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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.