Rare diseases · Sign or symptom
Small hand
Disproportionately small hands
HP:0200055
What it means
Disproportionately small hand.
Rare diseases that can present with this74
Very common80–99%
25- Aarskog-Scott syndrome
- Acrofacial dysostosis, Catania type
- Acrofacial dysostosis, Palagonia type
- Acromicric dysplasia
- Böök syndrome
- Cornelia de Lange syndrome
- Distal deletion 17q syndrome
- Dysplastic cortical hyperostosis, Al-Gazali type
- Grubben-de Cock-Borghgraef syndrome
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type
- Microtriplication 11q24.1 syndrome
- Pitt-Hopkins syndrome
- Ruvalcaba syndrome
- Sanjad-Sakati syndrome
- Short stature-valvular heart disease-characteristic facies syndrome
- Temple syndrome
- Temple syndrome due to maternal uniparental disomy of chromosome 14
- Temple syndrome due to paternal 14q32.2 hypomethylation
- Temple syndrome due to paternal 14q32.2 microdeletion
- Wilson-Turner syndrome
- X-linked intellectual disability, Armfield type
- X-linked intellectual disability, Cabezas type
- X-linked intellectual disability, Cilliers type
- Xp22.13p22.2duplication syndrome
- Xq27.3q28duplication syndrome
Common30–79%
30- 2q37microdeletion syndrome
- 4q21microdeletion syndrome
- 9q31.1q31.3microdeletion syndrome
- Acrofacial dysostosis, Weyers type
- Acrogeria
- Atypical Rett syndrome
- Autosomal recessive Kenny-Caffey syndrome
- Camptodactyly syndrome, Guadalajara type 3
- Desbuquois syndrome
- Distal deletion 15q syndrome
- Dubowitz syndrome
- Hypotonia-speech impairment-severe cognitive delay syndrome
- Monosomy 5p syndrome
- Multiple congenital anomalies-hypotonia-seizures syndrome
- Oculo-palato-cerebral syndrome
- Pentasomy X syndrome
- Pfeiffer syndrome type 2
- Pfeiffer syndrome type 3
- Poland syndrome
- Prader-Willi syndrome
- Prader-Willi syndrome due to imprinting mutation
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- Prader-Willi syndrome due to paternal 15q11q13 deletion
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- Prader-Willi syndrome due to translocation
- Pycnodysostosis
- Schaaf-Yang syndrome
- SIM1-related Prader-Willi-like syndrome
- Werner syndrome
Sometimes5–29%
19- 11q22.2q22.3microdeletion syndrome
- 15q24microdeletion syndrome
- Aicardi syndrome
- Andersen-Tawil syndrome
- Cartilage-hair hypoplasia
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
and 11 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: Small hands
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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.