Muenke syndrome

Classification according to ICD-10
Q75.0	Craniosynostosis
Q87.0	Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Koronarnahtsynostose syndrome , also Muenke syndrome called, is an inherited form of craniosynostosis , the coronal concerning additional changes in the hand and tarsal bones.

The name refers to the first description in 1997 by M. Muenke and colleagues.

distribution

The frequency is unknown; the inheritance is autosomal dominant .

root cause

The disease is based on mutations in the FGFR3 gene at location 4p16.3.

Clinical manifestations

The premature closure of the coronary suture results in a changed shape of the head and face, brachycephaly with bilateral synostosis , plagiocephaly with one-sided suture closure. Fusions of the carpal bones and tarsal bones, brachydactyly or cone epiphyses are often found on the extremities .

An association with osteochondromas has been described.

diagnosis

Coronary suture synostosis occurs in approximately 1 in 15,000 newborns. The detection of the gene mutation is required for Muenke syndrome.

Sonographically , the diagnosis can already be suspected in the womb.

Differential diagnosis

The clinically similar changes in Pfeiffer syndrome , Jackson-Weiss syndrome , Keipert syndrome and Saethre-Chotzen syndrome are to be distinguished .

therapy

As with all craniosynostoses, the treatment is limited to removing increased pressure on the brain and cranial nerves, if necessary by means of an operation .

literature

SL Mansour, C. Li, LD Urness: Genetic rescue of Muenke syndrome model hearing loss reveals prolonged FGF-dependent plasticity in cochlear supporting cell fates. In: Genes & development. Vol. 27, No. 21, November 2013, pp. 2320-2331, ISSN 1549-5477 . doi : 10.1101 / gad.228957.113 . PMID 24145799 . PMC 3828518 (free full text).

Individual evidence

↑ ^a ^b ^c ^d 10716 Muenke syndrome. In: Orphanet (Rare Disease Database).
↑ M. Muenke, KW Gripp, DM McDonald-McGinn, K. Gaudenz, LA Whitaker, SP Bartlett, RI Markowitz, NH Robin, N. Nwokoro, JJ Mulvihill, HW Losken, JB Mulliken, AE Guttmacher, RS Wilroy, LA Clarke , G. Hollway, LC Adès, EA Haan, JC Mulley, MM Cohen, GA Bellus, CA Francomano, DM Moloney, SA Wall, AO Wilkie: A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. In: American Journal of Human Genetics . Vol. 60, No. 3, March 1997, pp. 555-564, ISSN 0002-9297 . PMID 9042914 . PMC 1712518 (free full text).
^ Muenke syndrome. In: Online Mendelian Inheritance in Man . (English)
^ SG Talbot, J. Upton, GF Rogers: Muenke syndrome associated with multiple osteochondromas. In: The Journal of craniofacial surgery. Vol. 23, No. 2, March 2012, pp. E115 – e117, ISSN 1536-3732 . doi : 10.1097 / SCS.0b013e31824cd9f6 . PMID 22446440 .
^ A. Shaw, OB Petersen, LS Chitty: Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome. In: Journal of Obstetrics and Gynaecology: the journal of the Institute of Obstetrics and Gynaecology. Vol. 31, No. 8, November 2011, pp. 770-771, ISSN 1364-6893 . doi : 10.3109 / 01443615.2011.615956 . PMID 22085076 .

[Orpha-1] 10716 Muenke syndrome. In: Orphanet (Rare Disease Database).

[2] M. Muenke, KW Gripp, DM McDonald-McGinn, K. Gaudenz, LA Whitaker, SP Bartlett, RI Markowitz, NH Robin, N. Nwokoro, JJ Mulvihill, HW Losken, JB Mulliken, AE Guttmacher, RS Wilroy, LA Clarke , G. Hollway, LC Adès, EA Haan, JC Mulley, MM Cohen, GA Bellus, CA Francomano, DM Moloney, SA Wall, AO Wilkie: A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. In: American Journal of Human Genetics . Vol. 60, No. 3, March 1997, pp. 555-564, ISSN 0002-9297 . PMID 9042914 . PMC 1712518 (free full text).

[3] Muenke syndrome. In: Online Mendelian Inheritance in Man . (English)

[4] SG Talbot, J. Upton, GF Rogers: Muenke syndrome associated with multiple osteochondromas. In: The Journal of craniofacial surgery. Vol. 23, No. 2, March 2012, pp. E115 – e117, ISSN 1536-3732 . doi : 10.1097 / SCS.0b013e31824cd9f6 . PMID 22446440 .

[5] A. Shaw, OB Petersen, LS Chitty: Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome. In: Journal of Obstetrics and Gynaecology: the journal of the Institute of Obstetrics and Gynaecology. Vol. 31, No. 8, November 2011, pp. 770-771, ISSN 1364-6893 . doi : 10.3109 / 01443615.2011.615956 . PMID 22085076 .