Ritscher-Schinzel syndrome

The Ritscher-Schinzel syndrome is a variant of as Dandy-Walker Malformation known (DWM or engl. DWS) malformations , also known as 3C syndrome or CCC dysplasia ( craniocerebellocardiac dysplasia hereinafter). At least 20 cases have been observed and published since they were first described. It is a malformation of the heart with cerebellar hypoplasia and cranial dysmorphism.

root cause

The disease are mutations in KIAA0196 - gene on locus 8q24.13 basis. Inheritance is autosomal - recessive .

Sometimes there is also a permagna parietal foramina .

Individual evidence

↑ D. Ritscher et al: Dandy-Walker (like) malformation, atrio-ventricular septal defects and a similar pattern of minor anomalies in 2 sisters. In: Am. J. Med. Genet. (1987); 26, pp. 481-491.
↑ PG Wheeler et al.: The 3C syndrome: evolution of the phenotype and growth hormone deficiency. In: Am. J. Med. Genet. (1999); 87 (1), pp. 61-64.
↑ Ritscher-Schinzel Syndromes. In: Online Mendelian Inheritance in Man . (English)

[1] D. Ritscher et al: Dandy-Walker (like) malformation, atrio-ventricular septal defects and a similar pattern of minor anomalies in 2 sisters. In: Am. J. Med. Genet. (1987); 26, pp. 481-491.

[2] PG Wheeler et al.: The 3C syndrome: evolution of the phenotype and growth hormone deficiency. In: Am. J. Med. Genet. (1999); 87 (1), pp. 61-64.

[3] Ritscher-Schinzel Syndromes. In: Online Mendelian Inheritance in Man . (English)