Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ritscher-Schinzel syndrome or 3C (craniocerebello-cardiac) syndrome is characterized by cardiac defects, cerebellar vermis hypoplasia, and cranial defects. Nineteen cases were reported previously; however, the full spectrum of this disorder has not been determined. We have evaluated two unrelated males with this condition. Both had defects of the endocardial cushion and vermis hypoplasia with hypotonia. In addition, both had hypospadias, a previously undescribed finding of this disorders. Review of the previously reported cases and those described herein demonstrate: 1) Although varying degrees of vermis hypoplasia are accompanied by hypotonia, delayed gross motor function improves with advancing age leaving speech delay as the major neurodevelopmental handicap. 2) Two different types of cardiac anomalies occur: defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to complete AV canal, and/or conotruncal defects. 3) Postnatal growth deficiency was seen in most patients in whom longitudinal information was available. In our review of patients with vermis hypoplasia we ascertained a patient diagnosed as having "Joubert syndrome" who had most findings of the Ritscher-Schinzel syndrome and several other patients with "Dandy-Walker syndrome" who likely have had Ritscher-Schinzel syndrome, suggesting that Ritscher-Schinzel syndrome is more common than has been appreciated. Careful search for the subtle facial changes characteristic of this disorder as well as coloboma, cleft palate/bifid uvula, short neck, syndactyly, and hypoplasia of the nails is warranted when evaluating children with Dandy-Walker malformation with or without clinical signs of Joubert syndrome.
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PMID:Ritscher-Schinzel (3C) syndrome: documentation of the phenotype. 902 Oct 15

A boy, aged 1 month, attended the hospital due to feeding difficulty and hypotonia. He had unusual facial features (prominent forehead, hypertelorism, ptosis of the lateral canthus, thin upper lip, and low-set ears), hypotonia, and a decreased score of neonatal behavioral neurological assessment. Heart ultrasound showed atrial septal defect. Cranial MRI showed widened supratentorial ventricle, cerebral cistern, and subarachnoid space. High-throughput whole-exome sequencing of the boy detected a hemizygous mutation, c.315_320delTGAGCG, in the CCDC22 gene, which came from his mother, while such mutation was not found in his father. The unusual facies, clinical manifestations, and inheritance pattern of this boy were consistent with the manifestations of Ritscher-Schinzel syndrome reported abroad. This is a report for the first time of a case of X-linked recessive Ritscher-Schinzel syndrome caused by the hemizygous mutation c.315_320delTGAGCG in the CCDC22 gene in Chinese population.
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PMID:[Ritscher-Schinzel syndrome caused by CCDC22 gene mutation: a case report]. 3305 14