Frontonasal dysplasia, also known as median cleft face syndrome, is a rare disorder characterized by midline defects involving the face, head, and central nervous system.
Frontonasal dysplasia is considered to be a very rare condition, with approximately 100 cases having been reported in the literature 8.
Clinical features are extremely varied and can be present in any combination or severity. Commonly described features include 8,9:
- face and head
- central nervous system
The exact pathogenesis is unknown but it is possible that a primary neural crest migration defect or a fetal ischemic episode inhibiting cell migration act as an initial event. Some authors consider this condition to be a less severe manifestation of the holoprosencephaly spectrum.
Most cases are sporadic although rare familial cases have been described 8.
Radiographic features, similar to the clinical presentation, are highly variable and can be detected prenatally. See individual articles for detailed characteristics of each possible defect.
Treatment and prognosis
No specific treatment is available. Surgical intervention is often required for midline facial defects 9.
History and etymology
The term 'frontonasal dysplasia' was introduced by H O Sedano et al. in 1970 to describe a group of patients with midline facial clefting 7.
- 1. Martinelli P, Russo R, Agangi A et-al. Prenatal ultrasound diagnosis of frontonasal dysplasia. Prenat. Diagn. 2002;22 (5): 375-9. doi:10.1002/pd.287 - Pubmed citation
- 2. Frattarelli JL, Boley TJ, Miller RA. Prenatal diagnosis of frontonasal dysplasia (median cleft syndrome). J Ultrasound Med. 1996;15 (1): 81-3. J Ultrasound Med (citation) - Pubmed citation
- 3. Johnstone E, Glanville T, Pilling J et-al. Prenatal diagnosis of frontonasal dysplasia using 3D ultrasound. Prenat. Diagn. 2008;28 (11): 1075-6. doi:10.1002/pd.2118 - Pubmed citation
- 4. Jones KL, Smith DW. Smith's recognizable patterns of human malformation. W B Saunders Co. (2006) ISBN:0721606156. Read it at Google Books - Find it at Amazon
- 5. Hodgkins P, Lees M, Lawson J et-al. Optic disc anomalies and frontonasal dysplasia. Br J Ophthalmol. 1998;82 (3): 290-3. Br J Ophthalmol (link) - Free text at pubmed - Pubmed citation
- 6. Lees MM, Hodgkins P, Reardon W et-al. Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six cases. Clin. Dysmorphol. 1998;7 (3): 157-62. - Pubmed citation
- 7. Sedano HO, Cohen MM, Jirasek J et-al. Frontonasal dysplasia. J. Pediatr. 1970;76 (6): 906-13. - Pubmed citation
- 8. Wu E, Vargevik K, Slavotinek AM. Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. (2007) American journal of medical genetics. Part A. 143A (24): 3069-78. doi:10.1002/ajmg.a.31963 - Pubmed
- 9. Guion-Almeida ML, Richieri-Costa A. Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients. (2009) American journal of medical genetics. Part A. 149A (5): 1006-11. doi:10.1002/ajmg.a.32717 - Pubmed