Rare diseases · Sign or symptom
Short toe
Short toes
HP:0001831
What it means
A toe that appears disproportionately short compared to the foot.
This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly.
Rare diseases that can present with this45
Very common80–99%
13- Acrodysostosis
- Acromesomelic dysplasia, Grebe type
- Borjeson-Forssman-Lehmann syndrome
- Brachydactylous dwarfism, Mseleni type
- Brachydactyly type B2
- Dysplastic cortical hyperostosis, Al-Gazali type
- Hajdu-Cheney syndrome
- Hypochondroplasia
- PDE4D haploinsufficiency syndrome
- Peters plus syndrome
- Simpson-Golabi-Behmel syndrome
- Temtamy syndrome
- Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
Common30–79%
16- Acrootoocular syndrome
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Camptodactyly syndrome, Guadalajara type 1
- Classical-like Ehlers-Danlos syndrome type 1
- Eiken syndrome
- Jacobsen syndrome
- Laron syndrome
- Oliver syndrome
- Orofaciodigital syndrome type 1
- Pierpont syndrome
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
- Roifman syndrome
- SPECC1L-related hypertelorism syndrome
- Spondylometaphyseal dysplasia, Kozlowski type
- Yunis-Varon syndrome
Sometimes5–29%
15- Abruzzo-Erickson syndrome
- Alström syndrome
- Intellectual disability-balding-patella luxation-acromicria syndrome
- Intellectual disability-facial dysmorphism-hand anomalies syndrome
- Intellectual disability syndrome due to a DYRK1A point mutation
- Isolated fibular hemimelia
- Monosomy X syndrome
- Mosaic monosomy X syndrome
and 7 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
Also called: Brachydactyly of the foot · Hypoplasia of the toe · Hypoplastic toes · Short foot phalanges · Stubby toes
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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.