Frontonasal Dysplasia

Classification according to ICD-10
Q75.8	Other specified congenital malformations of the skull and facial bones
ICD-10 online (WHO version 2019)

The fronto-nasal dysplasia is a rare congenital developmental disorder of the Axis development field with the main features of abnormalities of the eyes , the forehead and nose and Dysraphism the face center and pointed hairline .

Synonyms: midline defect; Midline lock disorder; ventral defect syndrome; Median facial cleft syndrome; Median column syndrome; ALX-3 dependent fronto-nasal dysplasia; Isolated median facial cleft; Isolated Median Column Syndrome; english midline cleft syndrome; Median Cleft Face Syndromes

distribution

The frequency and etiology are not known. About 100 patients have been reported to date.

Presumably it is a disturbance of the embryological development of the nasal capsule.

Hereditary forms

In a few forms, the inheritance and genetic defects are known:

• Toriello syndrome autosomal dominant , mutations in the ZSWIM6 gene at locus 5q12.1
• Frontonasal dysplasia type 1 , mainly abnormalities of the nose, long philtrum and ptosis of the upper eyelid , autosomal recessive , mutations in the ALX3 gene at 1p13.3
• Frontonasal dysplasia type 2 , alopecia and increased foramina parietalia in the parietal bone , in males often genital malformations , autosomal recessive mutations in the gene at 11p11.2 ALX4
• Frontonasal dysplasia type 3 , anophthalmia or microphthalmia , deeply attached auricles , type with the most pronounced facial changes, autosomal recessive, mutations in the ALX1 gene at 12q21.3q

Clinical manifestations

Diagnostic criteria:

• congenital malformations mostly in the midline of the body
• Eyes such as coloboma , cataract , microphthalmia
• Central nervous system , also corpus callosum agenesis , encephalocele
• Midface with cleft lip and palate , hypertelorism , broad nasal root, large, split nose tip
• Larynx , trachea , esophagus , heart , diaphragm

In addition, there may be malformations of the genitals , the anus and / or the spine , and more rarely a meningomyelocele , a sirenomelia or a caudal regression syndrome .

diagnosis

Already in utero can malformation ultrasound , some abnormalities are detected.

If there is a combination with a craniosynostosis , it can be a cranio-fronto-nasal dysplasia . The craniotelencephalic dysplasia must also be differentiated .

therapy

Various surgical procedures are available to correct the facial changes .

history

The term "Median Cleft Face Syndrome" was coined in 1967 by W. DeMyer.

The term "frontonasal dysplasia" was coined in 1970 by the Argentine pathologist Heddie O. Sedano.

The first summary as a development field defect was made in 1982 by the US human geneticist John Marius Opitz and Enid F. Gilbert.

literature

• P. Lorenz, B. Prager, H. Tellkamp: Frontonasal dysplasia. Case report and literature review. In: Pediatric Practice. Vol. 58, No. 8, August 1990, pp. 415-420, PMID 2232516 (review).

Individual evidence

1. ↑ ^{a b c} Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
2. ↑ ^{a b c} Dysplasia, fronto-nasal. In: Orphanet (Rare Disease Database).
3. ^ S. Sharma, V. Sharma, M. Bothra: Frontonasal dysplasia (Median cleft face syndrome). In: Journal of neurosciences in rural practice. Vol. 3, No. 1, January 2012, pp. 65-67, doi: 10.4103 / 0976-3147.91947 , PMID 22346197 , PMC 3271621 (free full text).
4. ↑ Dysplasia, acromelic frontonasal. In: Orphanet (Rare Disease Database).
5. ↑ Acromelic frontonasal dysostosis.  In: Online Mendelian Inheritance in Man . (English)
6. ↑ ^{a b c} Genetics Home Reference
7. ^ Frontonasal dysplasia 1.  In: Online Mendelian Inheritance in Man . (English)
8. ^ Frontonasal dysplasia 2.  In: Online Mendelian Inheritance in Man . (English)
9. ^ Frontonasal dysplasia 3rd  In: Online Mendelian Inheritance in Man . (English)
10. ↑ A. Esmer, I. Kalelioğlu, H. Kayserili, A. Yüksel, R. Has: Prenatal diagnosis of dysplasia frontonasal with anterior encephalocele. In: Journal of the Turkish German Gynecological Association. Vol. 14, No. 1, 2013, pp. 50-52, doi: 10.5152 / jtgga.2013.12 , PMID 24592072 , PMC 3881724 (free full text).
11. ^ V. Guigue, A. Martin, M. Mangin, F. Arbez-Gindre, E. Labenne, L. Olivier-Faivre, R. Ramanah, D. Riethmuller: [A new prenatal diagnosis case of frontonasal dysplasia]. In: Journal de gynécologie, obstétrique et biologie de la reproduction. Vol. 40, No. 5, September 2011, pp. 476-480, doi: 10.1016 / j.jgyn.2011.01.017 , PMID 21388753 .
12. ^ SY Song, JW Choi, HW Lew, KS Koh: Nasal Reconstruction of a Frontonasal Dysplasia Deformity Using Aesthetic Rhinoplasty Techniques. In: Archives of plastic surgery. Vol. 42, No. 5, September 2015, pp. 637-639, doi: 10.5999 / aps.2015.42.5.637 , PMID 26430640 , PMC 4579180 (free full text).
13. ↑ W. DeMyer: The median cleft face syndrome. Differential diagnosis of cranium bifidum occultum, hypertelorism, and median cleft nose, lip, and palate. In: Neurology . Vol. 17, No. 10, October 1967, pp. 961-971, PMID 6069608 .
14. ^ HO Sedano, MM Cohen, J. Jirasek, RJ Gorlin: Frontonasal dysplasia. In: The Journal of Pediatrics . Volume 76, Number 6, June 1970, pp. 906-913, PMID 5444583 .
15. ^ JM Opitz, EF Gilbert: CNS anomalies and the midline as a "developmental field". In: American journal of medical genetics. Volume 12, Number 4, August 1982, pp. 443-455, doi: 10.1002 / ajmg.1320120408 , PMID 7124797 .

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