Rare diseases · Sign or symptom
Limb undergrowth
limb shortening
HP:0009826
What it means
Limb shortening because of underdevelopment of one or more bones of the extremities.
Rare diseases that can present with this36
Very common80–99%
11- Achondroplasia
- Acrocephalopolydactyly
- Atelosteogenesis type II
- Dysplastic cortical hyperostosis, Al-Gazali type
- Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
- Metaphyseal chondrodysplasia, Schmid type
- Rhizomelic chondrodysplasia punctata
- Spondyloepimetaphyseal dysplasia, matrilin-3 type
- Thoracic dysplasia-hydrocephalus syndrome
- Thoracomelic dysplasia
- Verloove Vanhorick-Brubakk syndrome
Common30–79%
11- Atelosteogenesis type I
- Autosomal recessive otospondylomegaepiphyseal dysplasia
- Dermatosparaxis Ehlers-Danlos syndrome
- Dyssegmental dysplasia, Silverman-Handmaker type
- Hall-Riggs syndrome
- Isolated fibular hemimelia
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- Microcephalic primordial dwarfism, Dauber type
- Multiple epiphyseal dysplasia due to collagen 9 anomaly
- Pseudoachondroplasia
- SPONASTRIME dysplasia
Sometimes5–29%
12- Congenital insensitivity to pain with severe intellectual disability
- DPM1-CDG
- GM1 gangliosidosis
- Leukocyte adhesion deficiency type II
- Multiple osteochondromas
- Orofaciodigital syndrome type 2
- Pyruvate dehydrogenase E1-alpha deficiency
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
and 4 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: Hypoplasia involving bones of the extremities · Short limb · Short limbs
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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.