Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.
The term otopalatodigital syndrome spectrum disorders is an umbrella category that includes four phenotypically related conditions, otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick - Needles syndrome. The phenotype of these conditions in the male ranges from a severe perinatally lethal multiple malformation syndrome to a mild skeletal dysplasia. Most, but not all, instances of these conditions are associated by mutations in the X-linked gene encoding the cytoskeletal protein filamin A. Mutations in this gene are clustered, exhibit a strong genotype-phenotype correlation and are presumed to exert their effect by a gain-of-function mechanism.
Robertson
Stephen P
SP
Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand. stephen.robertson@stonebow.otago.ac.nz
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D041321:Chromosomes, Human, X; D003285:Contractile Proteins / Q000235:genetics / Q000378:metabolism; D005260:Female; D064448:Filamins; D005817:Genetic Counseling; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics / Q000378:metabolism; D008958:Models, Molecular; D009030:Mosaicism; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D018570:Risk Assessment; D013577:Syndrome
D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins