Laurence-moon-bardet-biedl syndrome Q87.81

In 1866, the British ophthalmologists Laurence and Moon described a clinical picture in which four persons in one family were diagnosed with retinitis pigmentosa, who also had paraplegia, hypogenitalism and mental retardation .

In 1920, the French physician Bardet described a clinical picture composed of RP, polydactyly, obesity, and hypogenitalism. The Prague pathologist Biedl added debility to this clinical picture.

In 1925, Solis-Cohen and Weiss summarized the cases published up to that time and called it Laurence- Moon-Bardet-Biedl syndrome.

In the meantime, the Bardet-Biedl syndrome is assigned to the group of cilia diseases (ciliopathies). The ciliopathies are characterized by a broad clinical spectrum with overlaps and smooth transitions between different ciliary diseases.

Laurence-Moon-Bardet-Biedl syndrome is a complex, hereditary malformation syndrome from the group of ciliopathies. The syndrome is characterized by multiple malformations caused by mutations on different chromosomes or gene loci.

The prevalence of the disease varies between isolated, consunguineous (Bedouin and Newfoundland - 1:13,500 and 1:16,000) and other populations (North America and Europe - 1:140,000 and 1:160,000).

Mutations in at least twenty-one different genes (BBS1-BBS21) are associated with the disease.

BS1 is caused by mutation in a gene on chromosome 11q13 (209901);

BBS2 (615981), by mutation in a gene on 16q13 (606151);

BBS3 (600151), caused by mutation in the ARL6 gene on 3q11 (608845);

BBS4 (615982), by mutation in a gene on 15q22 (600374);

BBS5 (615983), by mutation in a gene on 2q31 (603650);

BBS6 (605231), by mutation in the MKKS gene on 20p12 (604896), mutations which also cause McKusick-Kaufman syndrome (236700);

BBS7 (615984), by mutation in a gene on 4q27 (607590);

BBS8 (615985), by mutation in the TTC8 gene on 14q32 (608132);

BBS9 (615986), by mutation in a gene on 7p14 (607968);

BBS10 (615987), by mutation in a gene on 12q (610148);

BBS11 (615988), by mutation in the TRIM32 gene on 9q33 (602290);

BBS12 (615989), by mutation in a gene on 4q27 (610683);

BBS13 (615990), by mutation in the FMD1 gene (609883) on 17q23, mutations that also cause Meckel syndrome-1 (249000);

BBS14 (615991), due to mutation in CEP290 gene (610142) on 12q21, mutations in which also causes Meckel syndrome-4 (611134) and several other disorders;

BBS15 (615992), caused by mutation in the C2ORF86 gene (613580), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz' on 2p15;

BBS16 (615993), due to mutation in the SDCCAG8 gene (613524) on 1q43, mutations which also cause senior loken syndrome-7 (613615);

BBS17 (615994), due to mutation in LZTFL1 gene (606568) on 3p21;

BBS18 (615995), caused by mutation in the BBIP1 gene (613605) on 10q25;

BBS19 (615996), by mutation in the IFT27 gene (615870) on 22q12;

BBS20 (617119), by mutation in the IFT74 gene (608040) on 9p21;

BBS21 (617406), by mutation in the C8ORF37 gene (614477).

Complex syndrome of malformation characterized by the following main symptoms:

• mental retardation
• retinopathy (Beetz 2013)
• Obesity
• Polydactyly
• malformations of the kidneys
• Hypogenitalism in male patients (Risler 2008).

Other symptoms with low frequency (secondary symptoms):

• Anal atresia
• Anosmia
• Ataxia
• Asthma
• Hypertension
• diabetes mellitus
• progressive sensorineural hearing loss
• heart malformations
• tall, giant, short stature
• hyperlipidemia (elevated cholesterol, triglycerides and lipoproteins)
• Hypodontia
• kyphoscoliosis
• liver enlargement, liver dysfunction, liver fibrosis
• Crohn's disease (inflammatory disease of the small and/or large intestine)
• Hirschsprung's disease or megacolon congenitum
• Pigmentnaevi
• Psychological problems: anxiety, depression, compulsive behavior, affective and autistic disorders, psychosomatic diseases
• Rib and vertebral dysplasias (malformations)
• Sleep apnea
• spina bifida
• Speech delay, speech deficits
• Urogenital dysplasias (malformations of the urinary and genital tracts)
• Tooth position anomalies

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