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17. DAM 2018 Genetics recessive

Little People UK have developed a video to raise awareness of the attention people with dwarfism, and disablities face in everyday situtations. 

People with disabilities, in particular those with dwarfism, encounter looks and stares from people, it's human nature. Children in particular find little people fascinating, often reacting quite vocally. Out of embarrassment, parents try to defuse the situation, but this isn't always in a positive way, which then makes children 'scared' of people who are different. When they only wanted to be treat like everyone else.

Little People UK would like to raise awareness and help people initiate a conversation instead of just staring.

What is Acrodysostosis Type II?

  • Disorders affecting bone growth 
  • Caused by mutation on PDE4D gene
  • Incidence is unknown

Diagnosis of Acrodysostosis Type II

  • Physical characteristics 
  • Pre-natal scans
  • X-rays after birth
  • Molecular Genetic tests 

What are the characteristics of Acrodysostosis Type II?

  • Short stature
  • Short fingers and toes
  • Underdeveloped facial bones giving distinct facial features
  • Spine curvature (scoliosis or kyphosis)
  • Low set ears
  • Possibile obesity
  • Advanced bone age 

Other information about Acrodysostosis Type II

  • Intelligence may be affected
  • Affects males and females equally

Genetics of Acrodysostosis Type II

  • If there is no history of Acrodysostosis in the family, Acrodysostosis can be passed on by one parent (dominant) as the result of a mutation 

Dwarfism Genetics Acrodysostosis mutation DOMINANT

Additional reading about Acrodysostosis Type II

Seventh Annual ‘Little People UK’ Convention

24th - 26th August, 2018

at

The Leicester Marriott Hotel, Enderby, Leicester, LE19 1SW, UK

Information Sheet

Little People UK are proud to announce our fifth annual convention. Below, we have set out a breakdown of the prices.

For more information please email: This email address is being protected from spambots. You need JavaScript enabled to view it. or call: 07925 893398  

Little People UK Convention Prices

PLEASE NOTE: All under 5’s FREE, Under 18 (Junior) LP’s FREE and over 60 LP’s FREE (over 60's will be required to pay for hotel rooms, activities/workshops are free)

LPUK Adult with buffet - £ 65.00

LPUK Adult with banquet - £ 70.00

(To include…entry to activities and workshops all weekend, disco and entertainment on Friday night, refreshments and hot buffet lunch on Saturday, buffet or banquet meal followed by after dinner entertainment and disco on Saturday evening.)

LPUK Junior* (6 to 18 yrs) with buffet - £ 35.00

LPUK Junior* (6 to 18 yrs) with banquet - £ 40.00 

*Remember: Junior LP’s (i.e. under 18 LP’s) are FREE 

(To include…entry to activities and workshops all weekend, disco and entertainment on Friday night, refreshments and hot buffet lunch on Saturday, buffet or banquet meal followed by after dinner entertainment and disco on Saturday evening.)

Optional - Sunday Roast £15 per adult and £7.50 per child

You are welcome to come and socialise at the hotel throughout the weekend and join in with the disco. There will be a charge of £5.00 for this ‘visitor’ access but no charge for under 18’s or LPUK members. Pre-registration will still be required. You will receive an event lanyard and a years membership to LPUK, but will not have access to the workshops, meals or LPUK Sunday Roast.

Leicester Marriott Hotel Room Prices

PLEASE NOTE: Rooms are to be booked through LPUK, do not call to book a room directly with the hotel. LPUK are not responsible for any rooms booked by an individual. After the registration deadline on 2nd August, rooms will NOT be available at the special LPUK rate.

All rooms include full breakfast for adults and children

Single occupancy room, per night - £83*

Double or family occupancy room, per night - £93*

*LPUK have secured a special rate for these rooms

The prices below are examples of prices for the full weekend: 

  Buffet Banquet
Single person: £246 £251
Couple: £346 £356
Family of 4 (2 adults and 2 children) £431 £451

(To include…bed and breakfast for Friday and Saturday night, entry to activities and workshops all weekend, disco and entertainment on Friday night, refreshments and hot buffet lunch on Saturday, buffet or banquet meal followed by after dinner entertainment and disco on Saturday evening and Sunday Roast on Sunday.)

The prices below are examples of prices for Saturday only (with no room overnight):

  Buffet Banquet
Single person: £65 £70
Couple: £130 £140
Family of 4 (2 adults and 2 children) £200 £220

(To include…entry to activities and workshops all weekend, disco and entertainment on Friday night, refreshments and hot buffet lunch on Saturday, buffet or banquet meal followed by after dinner entertainment and disco on Saturday evening.)

For more information please email: This email address is being protected from spambots. You need JavaScript enabled to view it. or call: 07925 893398


Each year Little People UK make every effort to keep the prices as low as possible. See below a price comparison to our previous convention: 

  2018 2017
     
LPUK Adult with buffet £65 £65
LPUK Adult with banquet £70 £70
     
LPUK Junior with buffet £35 £35
LPUK Junior with banquet £40 £40
     
Single Occupancy room per night £83 £81
Double Occupancy room per night £93 £91 

Little People UK also heavily subsidise the convention to cover items such as: entertainment, AV equipment over the weekend, concession places (e.g. under 18 and over 60 LP’s). We do this by applying for grants and also our wonderful fundraisers contribute to this a great deal. 

We appreciate the Little People UK conventions cost a lot for our members to attend, below we have outlined a couple of ways in which you can be assisted with the convention cost.

1. LPUK Payment Scheme 

Little People UK wants to guarantee everyone who wants to attend the convention can, therefore we have agreed that payments can be paid to LPUK in instalments, to cover a maximum of a 6 month period. We will set out the payment schedule prior to the event, and you will be required to make the first payment prior to the event itself. 

2. Outside funding 

There are a wide variety of charities, organisations and local groups who can provide financial support for attending the LPUK conventions. We have offered some examples of these, along with a template letter on our website - Funding for attending LPUK events page We can offer support on amending the letter to suite you.

If you would like to take up these offers or discuss further, please contact the office confidentially at This email address is being protected from spambots. You need JavaScript enabled to view it. or call 07925 893398. 

DEADLINE FOR BOOKING IS TUESDAY 7TH AUGUST!

 Book your place by downloading and completing our form

Download a Word version.

What is Acrodysostosis Type I?

  • Disorders affecting bone growth 
  • Caused by mutation on PRKAR1A gene
  • Incidence is unknown

Diagnosis of Acrodysostosis Type I

  • Physical characteristics 
  • Pre-natal scans
  • X-rays after birth
  • Molecular Genetic tests 

What are the characteristics of Acrodysostosis Type I?

  • Short stature
  • Short fingers and toes
  • Underdeveloped facial bones giving distinct facial features
  • Spine curvature (scoliosis or kyphosis)
  • Low set ears
  • Possibile obesity
  • Advanced bone age 

Other information about Acrodysostosis Type I

  • Intelligence may be affected
  • May have hormone resistance 
  • Can be difficult to distinguish from thyroid conditions
  • Affects males and females equally

Genetics of Acrodysostosis Type I

  • If there is no history of Acrodysostosis in the family, Acrodysostosis can be passed on by one parent (dominant) as the result of a mutation 

 Dwarfism Genetics Acrodysostosis mutation DOMINANT

Additional reading about Acrodysostosis Type I

Raise Funds to Raise Awareness

just giving

Commonly Used Acronymns

LP - Little Person/Little People

RG – Restricted Growth

POLP – Parent(s) of a Little Person

AH – Average Height

SENCO – Special Educational Needs Coordinator

LEA – Local Education Authority

TA – Teaching Assistant

EHCP – Educational Health Care Plan

PDSS – Physical Disability Support Service

OT – Occupational Therapist

PT – Physio Therapist

ENT – Ear, Nose, Throat Department

GP – General Practitioner

CSA – Central Sleep Apnea

OSA – Obstructive Sleep Apnea

MRI (scan) – Magnetic Resonance Imaging
http://www.nhs.uk/conditions/MRI-scan/Pages/Introduction.aspx

CT/CAT (scan) – Computerised (Axial) Tomography (uses x-rays)
http://www.nhs.uk/conditions/CT-scan/Pages/Introduction.aspx

X-Rays
http://www.nhs.uk/conditions/X-ray/Pages/Introduction.aspx

GMC – General Medical Council
http://www.gmc-uk.org

NHS – National Health Service
http://www.nhs.uk

NICE – National Institute for Health and Clinical Excellence
www.nice.org.uk

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