Laurence Moon syndrome (LMS) was first described in 1866, as a disorder that leads to obesity, mental retardation, and retinal dystrophy, accompanied by hypoplastic genitalia and gait disturbance [1]. Although historically connected to Bardet-Biedl syndrome, which is also a PNPLA6-related disorder, patients affected with LMS do not display the characteristic of polydactyly and the two disorders are presently considered as distinct; LMS patients are known, however, to exhibit variable disorder patterns, with one or more manifestations missing, even in the same family [2] [3] [4].

In the majority of the presently known Laurence-Moon syndrome cases, the disease has a childhood onset, characterized by cerebellar ataxia, spastic paraplegia, peripheral neuropathy, and chorioretinopathy [5]. Hypopituitarism frequently coexists, leading to hypogonadism and obesity. In one specific case, patients of the same family were described to exhibit retinopathy, subaverage intellectual ability, first metacarpal hypoplasia, abnormal development of genitalia, and short stature [6]. A synopsis of the LMS-related manifestations includes:

• Obesity

• Spastic paraplegia resulting in gait abnormality

• Cerebellar ataxia

• Retinopathy

• Short Stature

  Laurence-Moon-Biedl syndrome (lo-rĕns moon bee-d'l) n. an autosomal recessive condition characterized by obesity, short stature, learning disabilities, retinitis pigmentosa, and, more variably, impaired gonad development. [ J. Z. [encyclopedia.com]

  Their report described four out of eight siblings with retinitis pigmentosa, lack of intelligence, short stature for their age and hypogenitalism in the males. [whonamedit.com]

  In 1934, Biemond described a related entity, the Biemond II syndrome, characterized by short stature, iris coloboma, mental retardation, polydactyly, obesity, and hypogenitalism. (1) In 1932, Weiss had described an additional variant in this symptom complex [go.gale.com]

• Pathologist

  Moon, b. 1926, American pathologist; and Artur Biedl, 1869–1933, Austrian physiologist). Biedl, Artur, Austrian physician, 1869-1933. [medical-dictionary.thefreedictionary.com]

  人名（日本語） 使用例（英語） 使用例（日本語） 備考 Aarskog アースコグ Aarskog's syndrome アースコグ症候群 DagfinnAarskog （1928- ） Norwegianpediatrician and human geneticist Adamkiewicz アダムキーヴィッツ Adamkiewicz' artery アダムキーヴィッツ動脈 AlbertWojciech Adamkiewicz （1850-1921） Polish physician and pathologist [jams.med.or.jp]

  Genetics It is thought to have an autosomal recessive inheritance History and etymology It is currently named after: Arthur Biedl (1869-1933): Romano-Hungarian pathologist Georges Bardet: French physician Historical perspective The original syndrome as [radiopaedia.org]

  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. [altmeyers.org]

• Male Hypogonadism

  The accepted major criteria for diagnosis include retinal dystrophy, obesity, Polydactyly, male hypogonadism, mental retardation and renal dysfunction. [ijbcp.com]

  hypogonadism that manifests in the first decade of life with polydactyly as a congenital feature. [journals.lww.com]

  Hypogonadism All adults examined showed secondary sexual characteristics. In males, hypogonadism was almost universal (being present in 60 of 62 respondents), while maldescended testes were reported by eight patients (13%). [jmg.bmj.com]

• Unconsciousness

  At one point he had up to 40 seizures a day where he would go unconscious for 30 or 40 seconds. “Oddly it was about then that I finally came across BBS on the internet and coincidentally the boys’ paediatrician suggested genetic testing for it! [express.co.uk]

• Hypertension

  Half the subjects had hypertension. Fourteen of 17 patients could not concentrate urine above 750 mOsm per kilogram of body weight even after vasopressin, whereas all 10 normal controls could. [nejm.org]

  Renal disease was noted as primary or contributing cause of death in 7 cases with the diagnoses: cyst of the kidney, renal sclerosis, renal failure, proteinuria, renal disease unspecified and malignant hypertension with renal involvement. [ncbi.nlm.nih.gov]

  In her echocardiographic examination, left ventricular septal hypertrophy and pulmonary hypertension (systolic pulmonary artery pressure 55 mmHg) were reported. Systemic hypertension did not exist. [omicsonline.org]

  Of the nine patients with elevated UACR, four were hypertensive and one was both hypertensive and diabetic. Microscopic hematuria was found in only two patients. [cjasn.asnjournals.org]

  Kidney failure, diabetes mellitus, insulin resistance, hypertension and liver fibrosis which are not included among the criteria for the diagnosis of the disease can also be seen in these patients. [turkjnephrol.org]

• Night Blindness

  Associated with night blindness, hearing difficulties and hypogonadism (small testicles) and marked mental retardation. LAURENCE-MOON-BIEDL SYNDROME: "Laurence-Moon Biedl Syndrome is common in individuals displaying mental retardation." [psychologydictionary.org]

  Other clinical manifestations include night blindness, cataracts, and retinitis pigmentosa occurring during childhood. [accesspediatrics.mhmedical.com]

  CASE REPORT Here is a case of 19 old male who came to our OPD, Ophthalmology department, YCRH MIMSR medical college; latur; with complaints of night blindness, jerky eye movements since childhood which progressed gradually over years.He is born of consanguinous [de.slideshare.net]

  This patient had past history of night blindness with defective vision. The patient had an attack of high fever without any chill and rigor, before he lost his vision-in both eyes. [ijo.in]

• Photophobia

  Night blindness and severe photophobia are features in some cases. Both retinal and choroidal atrophy have been diagnosed in the first 5 years of life and most patients have a progressive and extensive pigmentary retinopathy. [disorders.eyes.arizona.edu]

  Presenting complaints & family history Of the 244 patients with retinitis pigmentosa and LMBB syndrome, 76 (31.15%) complained of defective night vision, 10 (4.10%) had a defective peripheral vision, six (2.46%) had photophobia/photopsia, and all 244 [journals.lww.com]

• Esotropia

  Little angle esotropia of OS was present. [healio.com]

• Spastic Paraplegia

  From Wikidata Jump to navigation Jump to search rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities Laurence-Moon-Biedl syndrome LAURENCE-MOON SYNDROME LNMS LAURENCE-MOON SYNDROME [wikidata.org]

  Diagnosis Based on the clinical features: mental retardation pigmentary retinopathy, hypogonadism, hypogenitalism, and spastic paraplegia. [accesspediatrics.mhmedical.com]

  Moon, American ophthalmologist, 1844-1914 an autosomal recessive disorder characterized by mental retardation, pigmentary retinopathy, hypogonadism, and spastic paraplegia. [medical-dictionary.thefreedictionary.com]

  Ataxia with spastic paraplegia. Renal anomalies - eg, clubbing, diverticula or calyceal cysts. Management There are no treatments specific to this syndrome. [patient.info]

• Ataxia

  Ataxia with spastic paraplegia. Renal anomalies - eg, clubbing, diverticula or calyceal cysts. Management There are no treatments specific to this syndrome. [patient.info]

  Laurence Moon syndrome is a rare genetic disease of a multisystemic nature that features hypopituitarism, obesity, mental retardation, ataxia, and retinal dystrophy. [symptoma.com]

  Spinocerebellar ataxia and progressive spastic paraplegia are variable components. Onset in childhood. Inheritance is autosomal recessive. [whonamedit.com]

  a genetic disorder that is a ciliopathy characterized especially by obesity, ataxia, learning disabilities, kidney abnormalities, short stature, subnormal development of the genital organs, retinitis pigmentosa, and type 2 diabetes Note: Laurence-Moon [merriam-webster.com]

  Homepage Rare diseases Search Search for a rare disease Laurence-Moon syndrome Disease definition A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy [orpha.net]

• Global Developmental Delay

  Secondary features may include: speech problems developmental delay (see entry Global Developmental Delay ) behavioural abnormalities eye abnormalities, including strabismus (cross-eyed), cataracts, and astigmatism (abnormally shaped eyeball) balance [contact.org.uk]

• Cryptorchidism

  0006101 Hand polydactyly Extra finger 0001161 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Obesity Having too much body fat 0001513 30%-79% of people have these symptoms Cryptorchidism [rarediseases.info.nih.gov]

  Extremities Polydactyly Syndactyly Neurologic Mental retardation Learning disabilitites Genitourinary examination Hypogonadism Cryptorchidism Microphallus Persistent urogenital sinus, ectopic urethra, hypoplasia of the uterus, ovaries, and fallopian tubes [wikidoc.org]

  Follow-up examinationat the age of 7 years showed obesity, mental retardation, retinitis pigmentosa, microphallus, and cryptorchidism. The diagnosis of Bardet-Biedl syndromewas established. [cocnet.org]

  Follow-up examination at the age of 7 years showed obesity, mental retardation, retinitis pigmentosa, microphallus, and cryptorchidism. The diagnosis of Bardet-Biedl syndrome was established. [g5d.perso.infonie.fr]

• Microphallus

  Extremities Polydactyly Syndactyly Neurologic Mental retardation Learning disabilitites Genitourinary examination Hypogonadism Cryptorchidism Microphallus Persistent urogenital sinus, ectopic urethra, hypoplasia of the uterus, ovaries, and fallopian tubes [wikidoc.org]

  Follow-up examinationat the age of 7 years showed obesity, mental retardation, retinitis pigmentosa, microphallus, and cryptorchidism. The diagnosis of Bardet-Biedl syndromewas established. [cocnet.org]

  Follow-up examination at the age of 7 years showed obesity, mental retardation, retinitis pigmentosa, microphallus, and cryptorchidism. The diagnosis of Bardet-Biedl syndrome was established. [g5d.perso.infonie.fr]

Laurence Moon syndrome is an inherited disorder classified under the PNPLA6-related disorders. An accurate diagnosis is achieved through genetic testing, accompanied by an evaluation of the clinical signs and symptoms, as well as laboratory tests and imaging studies [5]. Blood tests and imaging do not contribute to the diagnosis of LMS per se but help to evaluate and pinpoint manifestations.

Also, the clinical picture does not suffice to diagnose Laurence Moon syndrome. However, it does suggest which individuals should undergo further evaluation. Patients who present with difficulty in movement coordination, dizziness, speech problems, visual impairment, peripheral neuropathy, lower limb spasticity, and hypopituitarism are likely candidates for LMS.

Serum laboratory analysis is directed towards the detection of hypopituitarism in infants or children with evident clinical indications, such as short stature and hypoplastic genitalia. Low concentrations of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) are found in the majority of LMS patients [6]. Some patients will additionally undergo a magnetic resonance imaging (MRI) brain scan which could illustrate an underdeveloped pituitary [3].

The definitive LMS diagnosis is rendered possible when genetic testing reveals biallelic PNPLA6 pathogenic variants. This can be achieved via sequence analysis of the PNPLA6 gene, completed with a deletion/duplication analysis if necessary, or via a multi-gene sequencing panel [3].

Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions. newnav-down newnav-up [patient.info]

No treatment is currently known for the retinal degeneration associated with this syndrome Keywords : Article: Download PDF DOI : 10.36106/ijar Cite This Article: A RARE CASE OF LAURENCE-MOON BARDET‾BIEDL SYNDROME, Dr. Samreen Mehfooz, Dr. [worldwidejournals.com]

Treatments for the Two Conditions Treatment of BBS is focused on treating the symptoms of the disorder, such as vision correction or kidney transplants. [verywell.com]

Extra care is recommended in orthodontic treatment of patients with short tooth roots. Snoring problems should be investigated by a physician in cases of suspected sleep apnea (frequent breathing pauses during sleep). [mun-h-center.se]

In this article Features Management Prognosis Historical aspects Laurence-Moon Syndrome In this article Features Management Prognosis Historical aspects Synonyms: adipogenital-retinitis pigmentosa syndrome, LM syndrome This is a rare autosomal recessive [patient.info]

The prognosis of surgery for cervical compression myelopathy. J Bone and Joint Surg. 3 Gordon A M, Capute A J, Konigsmark B W. Progressive Quadriparesis, Mental Retardation, Retinitis Pigmentosa, and Hearing Loss: Report of Two Sibs. [nature.com]

The presence of renal impairment, occurring as frequently as any of the pentad of features that characterize the syndrome, has important implications for the prognosis and long term management of these patients. [ncbi.nlm.nih.gov]

However, timely symptomatic treatment ensures a good prognosis. Molecular Genetics Laurence Moon syndrome is transmitted in an autosomal recessive fashion. [cags.org.ae]

These syndromes have similar etiologies and presentations but are considered separate entities. Clinical signs of Laurence-Moon syndrome include ataxia, intellectual delay, retinitis pigmentosa and hypogonadism. [ebi.ac.uk]

Etiology Mutations in the BBS5 gene (responsible for Bardet-Biedl syndrome, BBS) and in the MKKS gene (responsible for McKusick-Kaufman syndrome) have been identified in some patients. [orpha.net]

Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology [decs.bvsalud.org]

Reports from the MHC data base Report from the Questionnaire (PDF) Report from the Observation Chart (PDF) Synonyms Bardet-Biedl syndrome Laurence-Moon syndrome LMBBS Codes ICD-10: Q87.8 ORPHA: 110 Estimated occurrence 5–100: 100 000 inhabitants Etiology [mun-h-center.se]

[…] written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology [books.google.de]

Medical Subject Heading: ; Bardet-Biedl Syndrome--epidemiology--Newfoundland and Labrador; Bardet-Biedl Syndrome--genetics--Newfoundland and Labrador; Laurence-Moon Syndrome--epidemiology--Newfoundland and Labrador; Laurence-Moon Syndrome--genetics--Newfoundland [research.library.mun.ca]

"Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study". Am. J. Med. Genet. A. 132 (4): 352–60. doi:10.1002/ajmg.a.30406. PMC 3295827. PMID 15637713. External links[edit] [en.wikipedia.org]

Pathophysiology Not known. Pituitary gland is morphologically and immunohistologically normal. Diagnosis Based on the clinical features: mental retardation pigmentary retinopathy, hypogonadism, hypogenitalism, and spastic paraplegia. [accesspediatrics.mhmedical.com]

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9):620–627. doi:10.4103/0301-4738.194328 Shrestha S, Chaudhary N. A rare case of obesity. Can it be Bardet-Biedl Syndrome?. [verywellhealth.com]

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9): 620-627. Hufnagel RB, Arno G, Hein ND, et al. [rarediseases.org]

Urban and Fischer Publishers 19 Kuhlmann U et al. (2015) Nephrology: pathophysiology - clinic - renal replacement procedures. [altmeyers.org]

Providing practical, data-driven resources based upon the totality of the evidence, this important text helps the reader understand the basics of pediatric obesity and T2DM and implement strategies to prevent and treat obesity and diabetes in children [books.google.de]

There is no treatment and attempts should be made, by GENETIC COUNSELLING, to prevent further transmission of the gene. (John Zacharias Laurence, 1830–1874, English physician; Richard C. [medical-dictionary.thefreedictionary.com]

[…] diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PS parasitology PA pathology PP physiopathology PC prevention [decs.bvsalud.org]

Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [naturallivingcenter.net]

Currently, there are no specific methods or guidelines to prevent Bardet-Biedl Syndrome, since it is a genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during [dovemed.com]

1. Laurence JZ, Moon RC. Four cases of retinitis pigmentosa occurring in the same family, and accompanied by general imperfections of development. Ophthalmol Rev. 1866;2:32–41.
2. Biedl A. Ein Geschwister mit adiposogenitaler Dystrophie. Dtsch Med Wochenschr. 1922;48:1630.
3. Hufnagel, R. B., Arno, G., Hein, et al. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J. Med. Genet.2015; 52:85-94.
4. Schachat AP, Maumenee IH. Bardet–Biedl syndrome and related disorders. Arch Ophthalmol.1982;100:285–288.
5. Synofzik M, Hufnagel RB, Züchner S. PNPLA6-Related Disorders. GeneReviews.2014.
6. Chalvon-Demersay A., Tardieu M., Crosnier H. Syndrome de Laurence-Moon (Bardet-Biedl) avec deficit en hormone de croissance. Arch Franc. Pediat.1993;50: 859-862.