Here I present: “Oculodentodigital Dysplasia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ODDD) icd10=Q87.8
INTRODUCTION.
Oculodentodigital dysplasia (ODDD) is a genetic condition that typically results in small eyes, underdeveloped teeth, and syndactyly and malformation of the fourth and fifth fingers. It is considered a kind of ectodermal dysplasia.
Oculodentodigital dysplasia (ODDD) is characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding.
There is evidence that autosomal dominant oculodentodigital dysplasia (ODDD) is caused by heterozygous mutation in the connexin-43 gene (GJA1) on cytogenetic location 6q22.31 and genomic coordinates 6:121,435,646-121,449,727. The screenshot of the GJA1 gene 14,082 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides GJA1 in the 6q22.31 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:118,813,455 | MCM9 | Minichromosome maintenance complex component 9 |
| 6:118,894,152 | ASF1A | Anti-silencing function 1A histone chaperone |
| 6:119,177,205 | MAN1A1 | Mannosidase, alpha, class 1A, member 1 |
| 6:121,079,494 | TBC1D32 | TBC1 domain family, member 32 |
| 6:121,435,646 | GJA1 | Gap junction protein, alpha-1 |
| 6:122,399,551 | HSF2 | Heat-shock transcription factor 2 |
| 6:122,443,351 | SERINC1 | Serine incorporator 1 |
| 6:122,471,921 | PKIB | Protein kinase, cAMP-dependent catalytic, inhibitor beta |
| 6:122,749,201 | FABP7 | Fatty acid-binding protein 7 |
| 6:122,789,258 | SMPDL3A | Sphingomyelin phosphodiesterase, 3A |
