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:'' Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet redirect here. See below for an explanation.'' The Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, hypogonadism, and renal failure in some cases. Historically, mental retardation has been considered a principal symptom but is now not regarded as such. ==Summary of the syndrome== Bardet–Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The main clinical features are rod–cone dystrophy, with childhood-onset visual loss preceded by night blindness; postaxial polydactyly; truncal obesity that manifests during infancy and remains problematic throughout adulthood; specific learning difficulties in some but not all individuals; male hypogenitalism and complex female genitourinary malformations; and renal dysfunction, a major cause of morbidity and mortality. There is a wide range of secondary features that are sometimes associated with BBS including * Speech disorder/delay * Strabismus/cataracts/astigmatism * "Brachydactyly/syndactyly of both the hands and feet is common, as is partial syndactyl (most usually between the second and third toes)" * "Developmental delay: Many children with BBS are delayed in reaching major developmental milestones including gross motor skills, fine motor skills, and psychosocial skills (interactive play/ability to recognize social cues)". However these delays are treatable with therapy. * Polyuria/polydipsia (nephrogenic diabetes insipidus) * Ataxia/poor coordination/imbalance * Mild hypertonia (especially lower limbs) * Diabetes mellitus * Dental crowding/hypodontia/small dental roots; high-arched palate * Cardiovascular anomalies * Hepatic involvement * Anosmia * Auditory deficiencies * Hirschsprung disease 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「:'' Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet redirect here. See below for an explanation.''The Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, hypogonadism, and renal failure in some cases. Historically, mental retardation has been considered a principal symptom but is now not regarded as such.==Summary of the syndrome==Bardet–Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The main clinical features are rod–cone dystrophy, with childhood-onset visual loss preceded by night blindness; postaxial polydactyly; truncal obesity that manifests during infancy and remains problematic throughout adulthood; specific learning difficulties in some but not all individuals; male hypogenitalism and complex female genitourinary malformations; and renal dysfunction, a major cause of morbidity and mortality. There is a wide range of secondary features that are sometimes associated with BBS including* Speech disorder/delay* Strabismus/cataracts/astigmatism* "Brachydactyly/syndactyly of both the hands and feet is common, as is partial syndactyl (most usually between the second and third toes)"* "Developmental delay: Many children with BBS are delayed in reaching major developmental milestones including gross motor skills, fine motor skills, and psychosocial skills (interactive play/ability to recognize social cues)". However these delays are treatable with therapy.* Polyuria/polydipsia (nephrogenic diabetes insipidus)* Ataxia/poor coordination/imbalance* Mild hypertonia (especially lower limbs)* Diabetes mellitus* Dental crowding/hypodontia/small dental roots; high-arched palate* Cardiovascular anomalies* Hepatic involvement* Anosmia* Auditory deficiencies* Hirschsprung disease」の詳細全文を読む スポンサード リンク
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