Professional Reference articles are designed for health professionals to use. They are written by UK doctors and based on research evidence, UK and European Guidelines. You may find one of our health articles more useful.
Synonyms: adipogenital-retinitis pigmentosa syndrome, LM syndrome
This is a rare autosomal recessive condition.
Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet syndrome are no longer considered valid terms, because the patients of Laurence and Moon had paraplegia, but no polydactyly or obesity, which are the main characteristics of Bardet-Biedl syndrome.[1, 2]
- Short stature.
- Retinitis pigmentosa, nystagmus, choroidal atrophy, cataract and squint.
- Micropenis with hypoplastic scrotum.
- Type 2 diabetes mellitus.
- General learning disability.
- Speech delay and deficit.
- Ataxia with spastic paraplegia.
- Renal anomalies - eg, clubbing, diverticula or calyceal cysts.
There are no treatments specific to this syndrome. Management of the features outlined above is multidisciplinary:
- Ophthalmic support for worsening vision.
- Endocrinology advice regarding short stature and hypogonadism. Growth hormone treatment may be useful.
- Speech therapy.
- Renal opinion.
Life expectancy is lower than that of the general population. Renal disease is a common primary or contributing cause of death.
- John Zachariah Laurence (1829-1870) was a British ophthalmologist. He was a founder of the South London Ophthalmic Hospital, later known as the Royal Eye Hospital.
- Robert Charles Moon (1844-1914) was born in Brighton and qualified in London. He emigrated to the USA in 1879, having been a surgeon at the South London Ophthalmic Hospital. He worked in Philadelphia.
- Arthur Biedl (1869-1933) was an endocrinologist born in Hungary. However, he qualified in Vienna and later became professor at the Institute of Pathology in Vienna.
- Georges Louis Bardet was a French physician born 1885. Very little is known about him, not even his date of death.
Further reading and references
M'hamdi O, Ouertani I, Chaabouni-Bouhamed H; Update on the genetics of bardet-biedl syndrome. Mol Syndromol. 2014 Feb5(2):51-6. doi: 10.1159/000357054. Epub 2013 Dec 20.
Bardet-Biedl Syndrome 1, BBS1; Online Mendelian Inheritance in Man (OMIM)
Laurence-Moon Syndrome; Online Mendelian Inheritance in Man (OMIM)
Leading Neuro and Ortho rehab centre with state of the art rehab for neurological patients, stroke and spinal cord injury. Helps patients resume daily activities at the earliest and live a fulfilling...rithu50561
Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. Patient Platform Limited has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.