Rare diseases · Sign or symptom
Abnormal dental enamel morphology
Abnormal tooth enamel
HP:0000682
What it means
An abnormality of the dental enamel.
The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite.
Rare diseases that can present with this71
Very common80–99%
23- 49,XXXXY syndrome
- Amelocerebrohypohidrotic syndrome
- Amelo-onycho-hypohidrotic syndrome
- AREDYLD syndrome
- Cleidocranial dysplasia
- CODAS syndrome
- Conductive deafness-ptosis-skeletal anomalies syndrome
- Corneodermatoosseous syndrome
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Craniosynostosis-anal anomalies-porokeratosis syndrome
- Deafness-enamel hypoplasia-nail defects syndrome
- Dentin dysplasia
- Dysosteosclerosis
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- EEC syndrome
- Enamel-renal syndrome
- Epidermolysis bullosa simplex with anodontia/hypodontia
- Jalili syndrome
- Lenz-Majewski hyperostotic dysplasia
- Oculodentodigital dysplasia
- Osteogenesis imperfecta
- Steroid dehydrogenase deficiency-dental anomalies syndrome
- Stimmler syndrome
Common30–79%
23- 17q11.2microduplication syndrome
- 3M syndrome
- 48,XXXY syndrome
- 48,XXYY syndrome
- Alopecia-contractures-dwarfism-intellectual disability syndrome
- Cole-Carpenter syndrome
- Costello syndrome
- Dental ankylosis
- Epidermolysis bullosa simplex with muscular dystrophy
- Familial isolated hypoparathyroidism
- Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
- Kindler epidermolysis bullosa
- Lacrimoauriculodentodigital syndrome
- Mucopolysaccharidosis type 4
- Otodental syndrome
- Paternal uniparental disomy of chromosome 1 syndrome
- Pili torti
- Postaxial polydactyly-dental and vertebral anomalies syndrome
- Regional odontodysplasia
- Sanjad-Sakati syndrome
- Seckel syndrome
- SHORT syndrome
- Williams 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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Abnormality of dental enamel · Defective tooth enamel · Dystrophic tooth enamel · Enamel abnormalities · Enamel abnormality · Malformation of dental enamel · Malformation of tooth enamel
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.