He was born with rare genetic disorder Bardet Biedl Syndrome
, which has affected his health and has forced him to under go 40 operations.
In syndromic form, Usher syndrome, Senior-Loken syndrome, Joubert syndrome, Bardet Biedl syndrome
and Meckel syndromes are very common while in non-syndromic form RP is the most common cause of vision impairment worldwide (Hildebrandt and Zhou, 2007; Hildebrandt et al., 2011) and Pakistan (Adhi and Ahmed, 2002).
Guo et al., "Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome
Proteins," PLoS Genet, vol.
The retinal dystrophy can be stationary, as in congenital stationary night blindness, or progressive with conditions such as cone-rod dystrophy, retinitis pigmentosa (see Figure 3, page 49), Bardet Biedl syndrome
and other ciliopathies.
CONCLUSION: Hence we would like to propound a new syndrome complex in this family which is similar to Bardet biedl syndrome
, but with added features of supernumerary teeth.
Laurence Moon Bardet Biedl syndrome is a group of features which that occur together to characterise a medical disorder.
A Welsh Assembly Government spokeswoman said about access to the specialist clinic: "The Welsh Assembly Government provides funding and support for specialised services for rare diseases such as Laurence Moon Bardet Biedl Syndrome (LMBB).
The Hilton Hotel, Cardiff will be the venue for the event for Laurence Moon Bardet Biedl Syndrome
; a rare, recessively inherited disorder, which can develop into blindness, diabetes and kidney failure.
Paula, who has Laurence Moon Bardet Biedl Syndrome
, can usually only walk short distances and relies on a wheelchair, so the trike will give her much greater freedom.
Biedl (2) in 1920 added 4th and 5th features mental retardation and hypogenitilism of the disorder now known as BARDET BIEDL SYNDROME