Amelogenesis imperfecta type 1E(AI1E)

MedGen UID:: 336847
•Concept ID:: C1845053
•: 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; ENAMEL HYPOPLASIA, X-LINKED 1

Gene (location): Gene(s) directly associated with this condition or phenotype.	AMELX (Xp22.2)

Monarch Initiative:	MONDO:0010521
OMIM®:	301200

Definition

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
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.

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. https://medlineplus.gov/genetics/condition/amelogenesis-imperfecta

Clinical features

From HPO

Amelogenesis imperfecta

MedGen UID:: 240
•Concept ID:: C0002452
•: Congenital Abnormality

A developmental dysplasia of the dental enamel.

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Enamel hypoplasia

MedGen UID:: 3730
•Concept ID:: C0011351
•: Disease or Syndrome

Developmental hypoplasia of the dental enamel.

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Anterior open-bite malocclusion

MedGen UID:: 120566
•Concept ID:: C0266060
•: Finding

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.

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Abnormal dentin morphology