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Amelogenesis imperfecta type 1E(AI1E)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Amelogenesis imperfecta X-linked 1; Amelogenesis imperfecta, hypomaturation type, with snow-capped teeth; Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1; Enamel hypoplasia X-linked
Gene (location): AMELX (Xp22.2)
Monarch Initiative: MONDO:0010521
OMIM®: 301200


Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms (Witkop, 1988). [from OMIM]

Additional description

From MedlinePlus Genetics
Researchers have described at least 14 forms of amelogenesis imperfecta. These types are distinguished by their specific dental abnormalities and by their pattern of inheritance. Additionally, amelogenesis imperfecta can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.

Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent (adult) teeth.  https://medlineplus.gov/genetics/condition/amelogenesis-imperfecta

Clinical features

From HPO
Amelogenesis imperfecta
MedGen UID:
Concept ID:
Congenital Abnormality
A developmental dysplasia of the dental enamel.
Enamel hypoplasia
MedGen UID:
Concept ID:
Disease or Syndrome
Developmental hypoplasia of the dental enamel.
Anterior open-bite malocclusion
MedGen UID:
Concept ID:
Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.
Abnormal dentin morphology
MedGen UID:
Concept ID:
Anatomical Abnormality
Any abnormality of dentin.

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