Rare diseases · Sign or symptom

Enamel hypoplasia

Underdeveloped teeth enamel

HP:0006297

What it means

Developmental hypoplasia of the dental enamel.

Enamel hypoplasia can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. Enamel hypoplasia may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. Enamel hypoplasia regroups different clinical aspects: localized hypoplasia, generalized hypoplasia, enamel pits, enamel striae, and grooves defects. The term should be used to describe a quantitative defect of enamel. Enamel hypotrophy cannot be used as hypotrophy indicates loss of cells, whereas enamel is an acellular structure and thus not a tissue.

Rare diseases that can present with this41

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, and Orphanet separately records 4 diseases where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Defective enamel matrix · Dental enamel hypoplasia · Dysplasia of tooth enamel · Enamel dysplasia · Enamel hypotrophy · Enamel, underdeveloped · Hypoplasia of dental enamel · Hypoplasia of tooth enamel

Enamel hypoplasia

Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.

Start free with Eleplan

This 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.