Research Evidence
Peer-reviewed studies linked via MeSH term "Amelogenesis Imperfecta" from the MEDLINE/PubMed database.
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Multiomics Data Synthesis of FAM83H in Amelogenesis Imperfecta.
[object Object], [object Object] · Int Dent J · 2026
Dental Management of Genetic Dental Disorders: A Critical Review.
[object Object], [object Object], [object Object] et al. · J Dent Res · 2025
Pretreatments to bonding on enamel and dentin disorders: a systematic review.
[object Object], [object Object] · Evid Based Dent · 2024
Dental treatment approaches of amelogenesis imperfecta in children and young adults: A systematic review of the literature.
[object Object], [object Object], [object Object] et al. · J Esthet Restor Dent · 2024
PMID: 38258433Meta-Analysis
Association between malocclusions and amelogenesis imperfecta genotype and phenotype: A systematic review.
[object Object], [object Object], [object Object] et al. · Int Orthod · 2023
PMID: 37494776Meta-Analysis
Patient-reported outcome measures in individuals with amelogenesis imperfecta: a systematic review.
[object Object], [object Object], [object Object] · Eur Arch Paediatr Dent · 2022
Association of molar incisor hypomineralization with premature birth or low birth weight: systematic review and meta-analysis.
[object Object], [object Object], [object Object] et al. · J Matern Fetal Neonatal Med · 2020
PMID: 30369281Meta-Analysis
Features, genetics and their correlation in Jalili syndrome: a systematic review.
[object Object], [object Object], [object Object] et al. · J Med Genet · 2019
PMID: 30705057Meta-Analysis
Interventions for the restorative care of amelogenesis imperfecta in children and adolescents.
[object Object], [object Object], [object Object] et al. · Cochrane Database Syst Rev · 2013
Amelogenesis imperfecta - a systematic literature review of associated dental and oro-facial abnormalities and their impact on patients.
[object Object], [object Object], [object Object] et al. · Acta Odontol Scand · 2008
PMID: 18615322Meta-Analysis
Search all PubMed articles for Amelogenesis imperfecta
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of dental color
Very frequent (80-99%)HP:0011073
Yellow-brown discolored teeth
Very frequent (80-99%)HP:0006286
Anterior open bite between upper and lower teeth
Frequent (30-79%)HP:0009102
Chewing difficulties
Frequent (30-79%)HP:0005216
Decreased enamel calcification
Frequent (30-79%)HP:0011084
Defective enamel matrix
Frequent (30-79%)HP:0006297
Enamel with tendency to chip
Frequent (30-79%)HP:0025124
Fluorosis of tooth enamel
Frequent (30-79%)HP:0006285
Immature tooth enamel
Frequent (30-79%)HP:0011085
Abnormal jaw morphology
Occasional (5-29%)HP:0030791
Abnormality of shape of permanent molar
Occasional (5-29%)HP:0011071
Decreased size of teeth
Occasional (5-29%)HP:0000685
Dentin anomaly
Occasional (5-29%)HP:0010299
Failure of eruption of multiple teeth
Occasional (5-29%)HP:0006283
Taurodont
Occasional (5-29%)HP:0000679
Wide-spaced teeth
Occasional (5-29%)HP:0000687
Related Conditions
Amelogenesis imperfecta, hypocalcification type(child)
Amelogenesis imperfecta, hypomaturation type(child)
Amelogenesis imperfecta, hypoplastic type(child)
Enamel-renal syndrome(child)
Kohlschutter's syndrome(child)
Enamel agenesis(child)
Jalili syndrome(child)
Amelogenesis imperfecta and gingival hyperplasia syndrome(child)
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome(child)
Trichodysplasia with amelogenesis imperfecta syndrome(child)
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome(child)
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome(child)
Stimmler syndrome(child)
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome(child)
Congenital anomaly of tooth(parent)
Teeth hard tissue diseases(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of tooth(parent)
Quick Facts
- SNOMED CT
- 78494001
- UMLS CUI
- C0002452
- Fully Specified Name
- Amelogenesis imperfecta (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 16
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.