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
Very common80–99%
4Common30–79%
21- 17q11.2microduplication syndrome
- Amelogenesis imperfecta
- Autoimmune polyendocrinopathy type 1
- Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- Cockayne syndrome
- Focal dermal hypoplasia
- Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
- Junctional epidermolysis bullosa inversa
- Junctional epidermolysis bullosa with pyloric atresia
- Laryngo-onycho-cutaneous syndrome
- Late-onset junctional epidermolysis bullosa
- Localized junctional epidermolysis bullosa
- Periodontal Ehlers-Danlos syndrome
- Pfeiffer-Palm-Teller syndrome
- Prader-Willi syndrome
- Pseudohypoparathyroidism type 1A
- Pseudohypoparathyroidism type 1B
- Pseudohypoparathyroidism type 1C
- Regional odontodysplasia
- SCARF syndrome
- Spondylocarpotarsal synostosis
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
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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.