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Amelogenesis imperfecta, hypomaturation type, IIa6(AI2A6)

MedGen UID:
934632
Concept ID:
C4310665
Disease or Syndrome
Synonyms: AI2A6; AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6
 
Gene (location): GPR68 (14q32.11)
 
Monarch Initiative: MONDO:0014971
OMIM®: 617217

Definition

Autosomal recessive amelogenesis imperfecta of the 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, 1989). [from OMIM]

Clinical features

From HPO
Amelogenesis imperfecta
MedGen UID:
240
Concept ID:
C0002452
Congenital Abnormality
A developmental dysplasia of the dental enamel.
Enamel hypomineralization
MedGen UID:
1802594
Concept ID:
C5690820
Disease or Syndrome
A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.
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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