The Dutch Uniform Multicenter Registration system for genetic disorders and malformation syndromes.

In medical genetics, several systems are used to classify and code genetic disorders for the purpose of automated registration. In the Netherlands, a genetic diagnosis code system has been developed that links a unique four-digit code to a principal description and all current synonyms. The main goal of this coding system is to enable nationwide uniformity of coding, without losing access to information stored in the past, identified by the ICD/BPA code (the International Classification of Diseases as adapted by the British Paediatric Association) and/or the MIM code (McKusick's classification in Mendelian Inheritance in Man). To this effect, the Dutch diagnosis code is cross-referenced with the 2 pre-existing classification systems. Developments in medical genetics make regular updates of all coding systems necessary. In the Netherlands, new diagnosis codes are assigned centrally to preserve uniformity and distributed periodically to all 8 clinical genetic centers. Diagnosis codes are assigned in numerical order of inclusion, enabling quick and easy updates. It is possible to include subclassifications of disorders according to pattern of inheritance, gene location, and gene mutations and to cover all disorders and disorder subtypes which are not clearly distinguished by the 2 pre-existing classification systems. The architecture of the coding system is suitable for international use. It offers a practical solution for clinical geneticists in need of a coding system suitable for clinical use. The use of the diagnosis code will also facilitate reliable comparison of data and nationwide genetic epidemiological studies.

FG syndrome: the trias mental retardation, hypotonia and constipation reviewed.

FG syndrome: The trias mental retardation, hypotonia and constipation reviewed: A family with FG syndrome in two males and mild features in their mothers is reported. The data of the present family are compared with the 56 patients from the literature. At birth, affected individuals present with hypotonia and constipation and/or anal anomalies and joint hyperlaxity. Mental deficiency is the rule. Craniofacial dysmorphism is nonspecific. Macrocephaly may be present at birth or develop later in life. Features in older patients include joint contractures and a typical pleasant personality, sometimes with sudden aggressive outbursts. FG syndrome has a variable clinical presentation and clinical diagnosis is difficult, especially in sporadic patients. A thorough family examination with special attention to mild symptoms in female relatives is emphazised.