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Amelogenesis imperfecta, type 3C(AI3C)

MedGen UID:
1676410
Concept ID:
C5193069
Disease or Syndrome
Synonym: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL RECESSIVE
 
Gene (location): RELT (11q13.4)
 
Monarch Initiative: MONDO:0032717
OMIM®: 618386

Definition

Amelogenesis imperfecta type IIIC is characterized by hypocalcified enamel in both the primary and secondary dentition. The enamel is rough and yellow-brown; under normal use, the enamel disintegrates from occlusal surfaces of the molars, leaving a ring of intact enamel remaining on the sides. Some affected individuals have anterior open bite (Kim et al., 2019). [from OMIM]

Clinical features

From HPO
Amelogenesis imperfecta
MedGen UID:
240
Concept ID:
C0002452
Congenital Abnormality
A developmental dysplasia of the dental enamel.
Hypocalcification of dental enamel
MedGen UID:
869123
Concept ID:
C4023541
Disease or Syndrome
A form of hypomineralization of enamel characterized by reduced calcification.
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.
Yellow-brown discoloration of the teeth
MedGen UID:
350813
Concept ID:
C1863008
Finding

Recent clinical studies

Diagnosis

Kantaputra P, Guven Y, Aksu B, Kalayci T, Doğan C, Intachai W, Olsen B, Tongsima S, Ngamphiw C, Noppakun K
J Am Dent Assoc 2022 Jul;153(7):668-676. Epub 2022 Mar 5 doi: 10.1016/j.adaj.2021.12.009. PMID: 35260236

Clinical prediction guides

Kantaputra P, Guven Y, Aksu B, Kalayci T, Doğan C, Intachai W, Olsen B, Tongsima S, Ngamphiw C, Noppakun K
J Am Dent Assoc 2022 Jul;153(7):668-676. Epub 2022 Mar 5 doi: 10.1016/j.adaj.2021.12.009. PMID: 35260236

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