Achondroplasia

disorder

SNOMED 86268005CUI C0001080

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Achondroplastic dwarfism" from the MEDLINE/PubMed database.

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Cardiovascular risk in achondroplasia: a systematic review.

[object Object], [object Object], [object Object] et al. · J Med Genet · 2026

PMID: 41167810Meta-Analysis

A comprehensive systematic review of health-related quality of life measures in short stature paediatric patients.

[object Object], [object Object], [object Object] et al. · Endocrine · 2024

PMID: 39017834Meta-AnalysisFull text (PMC)

Neurosurgical management of cervicomedullary compression, spinal stenosis, and hydrocephalus in pediatric achondroplasia: a systematic review.

[object Object], [object Object], [object Object] et al. · J Neurosurg Pediatr · 2023

PMID: 37728398Meta-Analysis

Burden and Treatment of Achondroplasia: A Systematic Literature Review.

[object Object], [object Object], [object Object] et al. · Adv Ther · 2023

PMID: 37382866Meta-AnalysisFull text (PMC)

How pain affect real life of children and adults with achondroplasia: A systematic review.

[object Object], [object Object], [object Object] et al. · Eur J Med Genet · 2023

PMID: 37758167Meta-Analysis

Molecular and Genetic Mechanisms of Spinal Stenosis Formation: Systematic Review.

[object Object], [object Object], [object Object] et al. · Int J Mol Sci · 2022

PMID: 36362274Meta-AnalysisFull text (PMC)

Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies.

[object Object], [object Object], [object Object] et al. · Orphanet J Rare Dis · 2022

PMID: 34983594Meta-AnalysisFull text (PMC)

Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.

[object Object], [object Object], [object Object] et al. · Am J Med Genet A · 2021

PMID: 33051983Meta-Analysis

Birth prevalence of achondroplasia: A systematic literature review and meta-analysis.

[object Object], [object Object], [object Object] et al. · Am J Med Genet A · 2020

PMID: 32803853Meta-AnalysisFull text (PMC)

Achondroplasia: Really rhizomelic?

[object Object], [object Object], [object Object] et al. · Am J Med Genet A · 2016

PMID: 27257098Meta-Analysis

Search all PubMed articles for Achondroplasia

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Bowed femura

Always present (100%)HP:0002980

Coanal stenosis

Always present (100%)HP:0000452

Feeding difficulties

Always present (100%)HP:0011968

Increased amniotic fluid index

Always present (100%)HP:0001561

Laboured breathing

Always present (100%)HP:0002098

Little foramen magnum

Always present (100%)HP:0002677

Narrowing of interpediculate distances

Always present (100%)HP:0008450

Poorly developed lungs

Always present (100%)HP:0002089

Premature rupture of membranes

Always present (100%)HP:0001788

Radial bowing

Always present (100%)HP:0002986

Severe platyspondyly

Always present (100%)HP:0004565

Short femur

Always present (100%)HP:0003097

Short ribs

Always present (100%)HP:0000773

Splayed metaphyses

Always present (100%)HP:0003015

Ulnar bowing

Always present (100%)HP:0003031

Bowed lower limbs

Very frequent (80-99%)HP:0002979

Hunched back

Very frequent (80-99%)HP:0002808

Short limbs

Very frequent (80-99%)HP:0009826

Short stature, severe disproportionate

Very frequent (80-99%)HP:0003498

Thoracolumbar gibbus deformity

Very frequent (80-99%)HP:0005619

Abnormal morphology of the midface

Frequent (30-79%)HP:0000309

Biparietal bossing

Frequent (30-79%)HP:0000242

Brachydactyly

Frequent (30-79%)HP:0001156

Central sleep apnea

Frequent (30-79%)HP:0010536

Cervical spinal canal stenosis

Frequent (30-79%)HP:0008445

Concave bridge of nose

Frequent (30-79%)HP:0005280

Deafness

Frequent (30-79%)HP:0000365

Frontal protuberance

Frequent (30-79%)HP:0002007

Functional abnormality of the middle ear

Frequent (30-79%)HP:0011452

Hip joint hypermobility

Frequent (30-79%)HP:0045087

Related Conditions

Severe achondroplasia, developmental delay, acanthosis nigricans syndrome(child)

Achondrogenesis(parent)

Disorder of epiphysis(parent)

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Chondrodysplasia(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 86268005
UMLS CUI: C0001080
Fully Specified Name: Achondroplasia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.