Rare diseases · Sign or symptom
Short stature
Decreased body height
HP:0004322
What it means
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Rare diseases that can present with this772
Very common80–99%
79- 12q14microdeletion syndrome
- 14q22q23microdeletion syndrome
- 1q41q42microdeletion syndrome
- 2q32q33deletion syndrome
- 3M syndrome
- 45,X/46,XY mixed gonadal dysgenesis
- 5q35microduplication syndrome
- 8p11.2deletion syndrome
- 8q24.3microdeletion syndrome
- Aarskog-Scott syndrome
- Acrocapitofemoral dysplasia
- Acrocraniofacial dysostosis
- Acrodermatitis enteropathica
- Acrodysostosis
- Acrofacial dysostosis, Catania type
- Acrofacial dysostosis, Palagonia type
- Acrofrontofacionasal dysostosis
- Acrogeria
- Alobar holoprosencephaly
- Alström syndrome
- Aminopterin/methotrexate embryofetopathy
- Aniridia-renal agenesis-psychomotor retardation syndrome
- Aphalangy-syndactyly-microcephaly syndrome
- AREDYLD syndrome
- Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
- Arthrogryposis multiplex congenita-whistling face syndrome
- Ataxia-photosensitivity-short stature syndrome
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- Atkin-Flaitz syndrome
- Atypical Werner syndrome
- Auriculoosteodysplasia
- Autosomal dominant brachyolmia
- Autosomal dominant Kenny-Caffey syndrome
- Autosomal dominant primary microcephaly
- Autosomal recessive cutis laxa type 2, classic type
- Autosomal recessive distal osteolysis syndrome
- Autosomal recessive hypophosphatemic rickets
- Autosomal recessive omodysplasia
- Autosomal recessive primary microcephaly
- Autosomal recessive spondylocostal dysostosis
- Axial mesodermal dysplasia spectrum
- Axial spondylometaphyseal dysplasia
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- Baller-Gerold syndrome
- Bangstad syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Bartter syndrome
- Beta-mercaptolactate cysteine disulfiduria
- Biemond syndrome type 2
- Bonnemann-Meinecke-Reich syndrome
- Bowen-Conradi syndrome
- Brachydactyly-arterial hypertension syndrome
- Brachydactyly-short stature-retinitis pigmentosa syndrome
- Brachydactyly type A1
- Brachymorphism-onychodysplasia-dysphalangism syndrome
- Brachyolmia, Maroteaux type
- Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- Branchiogenic deafness syndrome
- Bruck syndrome
- Camptodactyly-joint contractures-facial skeletal defects syndrome
- Camptodactyly syndrome, Guadalajara type 2
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
- Cardiofaciocutaneous syndrome
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- Cataract-intellectual disability-hypogonadism syndrome
- Cataract-nephropathy-encephalopathy syndrome
- Chondroectodermal dysplasia with night blindness
- Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
- Cleft palate-large ears-small head syndrome
- Cleidocranial dysplasia
- CODAS syndrome
- Coffin-Lowry syndrome
- COFS syndrome
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Cole-Carpenter syndrome
- Congenital cataracts-facial dysmorphism-neuropathy syndrome
- Congenital heart defect-round face-developmental delay syndrome
- Cornelia de Lange syndrome
- Corpus callosum agenesis-abnormal genitalia syndrome
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: Height less than 3rd percentile · Small stature · Stature below 3rd percentile
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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.