Disease name
Definition and diagnosis criteria
Epidemiology
Classification
Weinmann et al., 1945 [4] |
Two types based solely on phenotype: hypoplastic and hypocalcified
|
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Darling, 1956 [5] | Five phenotypes based on clinical, microradiographic and histopathological findings. |
Hypoplastic | |
Group 1 – generalised pitting | |
Group2 – vertical grooves (now known to be X-linked AI) | |
Group 3 – Generalised hypoplasia | |
Hypocalcified | |
Type 4A – chalky, yellow, brown enamel | |
Type 4B – marked enamel discolouration and softness with post-eruptive loss of enamel | |
Type 5 – generalised or localised discolouration and chipping of enamel | |
Witkop, 1957 [6] |
Classification based primarily on phenotype. 5 types:
|
1. Hypoplastic | |
2. Hypocalcification | |
3. Hypomaturation | |
4. Pigmented hypomaturation | |
5. Local hypoplasia | |
Added mode of inheritance as further means of delineating cases. | |
Schulze, 1970 [7] | Classification based on phenotype and mode of inheritance. |
Witkop and Rao, 1971 [8] | Classification based on phenotype and mode of inheritance. Three broad categories: hypoplastic, hypocalcificied, hypomaturation. |
a. Hypoplastic | |
Autosomal dominant hypoplastic-hypomaturation with taurodontism (subdivded into a and b according to author) | |
Autosomal dominant smooth hypoplastic with eruption defect and resorption of teeth | |
Autosomal dominant rough hypoplastic | |
Autosomal dominant pitted hypoplastic | |
Autosomal dominant local hypoplastic | |
X-linked dominant rough hypoplastic | |
b. Hypocalcified | |
Autosomal dominant hypocalcified | |
c. Hypomaturation | |
X-linked recessive hypomaturation | |
Autosomal recessive pigmented hypomaturation | |
Autosomal dominant snow-capped teeth | |
White hypomature spots? | |
Winter and Brook, 1975 [9] | Classification based primarily on phenotype. Four main categories: hypoplasia, hypocalcification, hypomaturation, hypomaturation-hypoplasia with taurodontism, with mode of inheritance as a secondary means of sub-classification. |
a. Hypoplasia | |
Type I. Autosomal dominant thin and smooth hypoplasia with eruption defect and resorption of teeth | |
Type II. Autosomal dominant thin and rough hypoplasia | |
Type III. Autosomal dominant randomly pitted hypoplasia | |
Type IV. Autosomal dominant localised hypoplasia | |
Type V. X-linked dominant rough hypoplasia | |
b. Hypocalcification | |
Autosomal dominant hypocalcification | |
c. Hypomaturation | |
Type I. X-linked recessive hypomaturation | |
Type II. Autosomal recessive pigmented hypomaturation | |
Type III. Snow-capped teeth | |
d. Hypomaturation-hypoplasia with taurodontism | |
Type I. Autosomal dominant smooth hypomaturation with occasional hypoplastic pits and taurodontism | |
Type II. Autosomal dominant smooth hypomaturation with thin hypoplasia and taurodontism | |
Witkop and Sauk, 1976 [2] |
Classification based on phenotype and mode of inheritance, similar to classification of Witkop and Rao (1971)
|
Sundell and Koch, 1985 [10] |
Classification based solely on phenotype
|
Witkop, 1988 [11] | Four major categories based primarily on phenotype (hypoplastic, hypomaturation, hypocalcified, hypomaturation-hypoplastic with taurodontism) subdivided into 15 subtypes by phenotype and and secondarily by mode of inheritance. |
Type I. Hypoplastic | |
Type IA. Hypoplastic, pitted autosomal dominant | |
Type IB. Hypoplastic, local autosomal dominant | |
Type IC. Hypoplastic, local autosomal recessive | |
Type ID. Hypoplastic, smooth autosomal dominant | |
Type IE. Hypoplastic, smooth X-linked dominant | |
Type IF. Hypoplastic, rough autosomal dominant | |
Type IG. Enamel agenesis, autosomal recessive | |
Type II. Hypomaturation | |
Type IIA. Hypomaturation, pigmented autosomal recessive | |
Type IIB. Hypomaturation, X-linked recessive | |
Type IIC. Hypomaturation, snow-capped teeth, X-linked | |
Type IID. Hypomaturation, snow-capped teeth, autosomal dominant? | |
Type IIIA. Autosomal dominant | |
Type IIIB. Autosomal recessive | |
Type IV. Hypomaturation-hypoplastic with taurodontism | |
Type IVA. Hypomaturation-hypoplastic with taurodontism, autosomal dominant | |
Type IVB. Hypoplastic-hypomaturation with taurodontism, autosomal dominant | |
Aldred and Crawford, 1995 [12] |
Classification based on:
|
Molecular defect (when known) | |
Biochemical result (when known) | |
Mode of inheritance | |
Phenotype | |
Hart et al., 2002 [13] |
Proposed a molecular defect sub classification of the AMELX conditions
|
1.1 Genomic DNA sequence | |
1.2 cDNA sequence | |
1.3 Amino acid sequence | |
1.4 Nucleotide and amino-acid sequences | |
1.5 AMELX mutations described to date | |
Aldred et al., 2003 [1] |
Classification based on:
|
Mode of inheritance | |
Phenotype – Clinical and Radiographic | |
Molecular defect (when known) | |
Biochemical result (when known) |