... testing can be found here . 4. Management of Bardet-Biedl Syndrome Evaluations Following Initial Diagnosis To establish the extent of disease and ongoing ...

... three affected individuals [ Goyal et al 2020 ]. Differential Diagnosis Bardet-Biedl syndrome (BBS) is a multisystem non-motile ciliopathy primarily ... of vaginal tract. No monitoring; prompt eval of symptoms & signs of abdominal distention ... syndrome 1 (BBS) Serial growth measurement to track height & ...

... syndrome; these features should prompt evaluation for alternative diagnosis such as Bardet-Biedl syndrome (see Table 4 ). Table 4. Disorders to Consider in the Differential Diagnosis of Alström Syndrome View in own window Disorder ...

... a major cause of morbidity and mortality. The diagnosis of Bardet-Biedl syndrome is established by clinical findings. Pathogenic variants in ...

... 25 genes are known to be associated with Bardet-Biedl syndrome (BBS); the BBS-related genes of primary interest in the differential diagnosis of ARPKD- PKHD1 include BBS10 and CEP290 . 15. ...

... in numerous disorders. The latter is seen in Bardet-Biedl syndrome and Smith-Lemli-Opitz syndrome , in which it can be a significant clue to diagnosis. Autism. See OMIM PS209850 . Epilepsy and epileptic encephalopathy ...

... to pathogenic variants in the listed genes. See Bardet-Biedl syndrome for additional associated genes. Management No clinical practice guidelines for adult Refsum disease (ARD) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...

... genes are associated with Bardet-Biedl syndrome (see Bardet-Biedl Syndrome Overview ). Optic atrophy associated with hearing impairment. See Table 4 . Table 4. Disorders with Optic Atrophy Associated with Hearing Impairment in the Differential Diagnosis of WFS1 Spectrum Disorder View in own window ...

... syndromic NPH-RC (e.g., Joubert syndrome or Bardet-Biedl syndrome ), genetic counseling ... a molecular diagnosis has been established in the proband, molecular genetic ...