Amelogenesis imperfecta hypomaturation type 2A2(AI2A2)

MedGen UID:: 436540
•Concept ID:: C2675858
•: Disease or Syndrome

Synonyms:	Amelogenesis imperfecta, hypomaturation type, IIA2; AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 2; Amelogenesis imperfecta, type IIA2

Gene (location): Gene(s) directly associated with this condition or phenotype.	MMP20 (11q22.2)

Monarch Initiative:	MONDO:0012926
OMIM®:	612529

Definition

Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1988). [from OMIM]

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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Hypomature enamel

MedGen UID:: 1780034
•Concept ID:: C1396276
•: Finding

Enamel with a white or brown discoloration without hypoplasia.

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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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Yellow-brown discoloration of the teeth