Rare diseases · Sign or symptom
Severe short stature
Dwarfism
HP:0003510
What it means
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm).
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this70
Very common80–99%
47- Achondrogenesis
- Achondrogenesis type 1A
- Achondrogenesis type 1B
- Acromicric dysplasia
- Alopecia-contractures-dwarfism-intellectual disability syndrome
- Autosomal dominant spondylocostal dysostosis
- Blepharophimosis-intellectual disability syndrome, SBBYS type
- Brachydactylous dwarfism, Mseleni type
- Cardiospondylocarpofacial syndrome
- Chondrodysplasia-difference of sex development syndrome
- Cockayne syndrome
- Corneodermatoosseous syndrome
- Deafness-vitiligo-achalasia syndrome
- Desbuquois syndrome
- Desmosterolosis
- Ear-patella-short stature syndrome
- Filippi syndrome
- Geroderma osteodysplastica
- Hypertrichosis cubiti
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
- Infantile systemic hyalinosis
- IVIC syndrome
- Juberg-Hayward syndrome
- Langer mesomelic dysplasia
- Laron syndrome
- Lenz-Majewski hyperostotic dysplasia
- Leri pleonosteosis
- Marden-Walker syndrome
- Marinesco-Sjögren syndrome
- Metatropic dysplasia
- Microbrachycephaly-ptosis-cleft lip syndrome
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Microcephalic primordial dwarfism, Montreal type
- Microcephalic primordial dwarfism, Toriello type
- Mietens syndrome
- Myhre syndrome
- Opsismodysplasia
- Orofaciodigital syndrome type 4
- Osteoglosphonic dysplasia
- Radio-renal syndrome
- Renpenning syndrome
- SHORT syndrome
- Spondylometaphyseal dysplasia, A4 type
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- Thumb deformity-alopecia-pigmentation anomaly syndrome
- Ulna hypoplasia-intellectual disability syndrome
- Weismann-Netter syndrome
Common30–79%
17- Autosomal dominant Robinow syndrome
- Distal duplication 17q syndrome
- Dyggve-Melchior-Clausen disease
- Dyssegmental dysplasia, Silverman-Handmaker type
- Hypertelorism-microtia-facial clefting syndrome
- Isolated succinate-CoQ reductase deficiency
- Johnson neuroectodermal syndrome
- Keratosis follicularis-dwarfism-cerebral atrophy syndrome
- Microcephalic cortical malformations-short stature due to RTTN deficiency
- Microphthalmia with linear skin defects syndrome
- Multiple pterygium-malignant hyperthermia syndrome
- Nicolaides-Baraitser syndrome
- Ptosis-vocal cord paralysis syndrome
- Ramos-Arroyo syndrome
- Spondyloepimetaphyseal dysplasia, Shohat type
- Spondylometaphyseal dysplasia, Kozlowski type
- Spondylometaphyseal dysplasia, Schmidt type
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: Proportionate dwarfism · Short stature, extreme · Short stature, severe
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.