Oculofaciocardiodental syndrome
| Oculofaciocardiodental syndrome | |
|---|---|
| Specialty | medical genetics |
Oculofaciocardiodental syndrome is a rare X linked genetic disorder.[1]
Genetics
This condition is caused by lesions in the BCOR gene located on the short arm of the X chromosome (Xp11.4). This protein encodes the BCL6 corepressor but little is currently known about its function. The inheritance is X-linked dominant.
A genetically related disorder is Lenz microphthalmia syndrome.[2]
Clinical
The incidence of this condition is <1 per million population. It is found only in females as all affected males die before birth. Teeth with large roots (radiculomegaly), heart defects, and small eyes (microphthalmia) are the characteristic triad found in this syndrome.
Typical features of the condition include:
- Face
- Deep set eyes
- Broad nasal tip divided by a cleft
- Eyes
- Microphthalmia (small eyes)
- Early cataracts
- Glaucoma
- Teeth
- Radiculomegaly (teeth with very large roots)
- Delayed loss of primary teeth
- Missing (oligodontia) or abnormally small teeth
- Misaligned teeth
- Defective tooth enamel.
- Heart defects
- Atrial and/or ventricular defects
- Mitral valve prolapse
- Mild mental retardation and conductive or sensorineural hearing loss may occur.
History
The first features of this syndrome noted were the abnormal teeth which were described by Hayward.[3]
References
- ↑ Surapornsawasd T, Ogawa T, Tsuji M, Moriyama K (2014) Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells. J Hum Genet doi:10.1038/jhg.2014.24
- ↑ Esmailpour, T; Riazifar, H; Liu, L; Donkervoort, S; Huang, VH; Madaan, S; Shoucri, BM; Busch, A; Wu, J; Towbin, A; Chadwick, RB; Sequeira, A; Vawter, MP; Sun, G; Johnston, JJ; Biesecker, LG; Kawaguchi, R; Sun, H; Kimonis, V; Huang, T (March 2014). "A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.". Journal of medical genetics. 51 (3): 185–96. PMID 24431331.
- ↑ Hayward JR (1980) Cuspid gigantism. Oral Surg Oral Med Oral Pathol 49: 500–501