Rare diseases · Sign or symptom
Hypoplastic toenails
Underdeveloped toenails
HP:0001800
What it means
Underdevelopment of the toenail.
Rare diseases that can present with this47
Very common80–99%
14- Acrofacial dysostosis, Weyers type
- Amelo-onycho-hypohidrotic syndrome
- Bartsocas-Papas syndrome
- Brachymorphism-onychodysplasia-dysphalangism syndrome
- Cronkhite-Canada syndrome
- Ellis-Van Creveld syndrome
- Epidermolysis bullosa simplex with anodontia/hypodontia
- Histidinuria-renal tubular defect syndrome
- Hypodontia-dysplasia of nails syndrome
- Odonto-onycho dysplasia-alopecia syndrome
- Phelan-McDermid syndrome
- Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
- Trisomy 9p syndrome
- Weaver syndrome
Common30–79%
16- 2q31.1microdeletion syndrome
- Aphalangy-syndactyly-microcephaly syndrome
- Cleft palate-large ears-small head syndrome
- Costello syndrome
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
- Distal deletion 10p syndrome
- Isotretinoin syndrome
- Monosomy X syndrome
- Mosaic monosomy X syndrome
- Mycophenolate mofetil embryopathy
- Non-distal duplication 13q syndrome
- Schneckenbecken dysplasia
- Turner syndrome
- Turner syndrome due to structural X chromosome anomalies
- Williams syndrome
Sometimes5–29%
16- 9p13microdeletion syndrome
- Autosomal dominant deafness-onychodystrophy syndrome
- Camptobrachydactyly
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Distal 22q11.2 microduplication syndrome
- Dubowitz syndrome
- Familial clubfoot due to 17q23.1q23.2 microduplication
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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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.