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  • Welcome

    Welcome to Little People UK website. 

    I am very proud and excited to share our website with you.

    It has been many months in development and I think it signals how LPUK has matured as a charity. The site aims to be an invaluable resource to the dwarfism community, their friends and families. Membership can be completed via this website and in time event registration will be available through the site too.

    We will continue to add information and develop the site based on user feedback, so if you have any suggestions, please email them to: This email address is being protected from spambots. You need JavaScript enabled to view it..

    Thank you,

    Sammy Davis
    Chair, Little People UK

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Join Little People UK

Become a member of Little People UK to keep up-to-date with what we are doing, receive invitations to events across the UK and get hold of new information literature that we produce.

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What is Léri-Weill Dyschondrosteosis? 

  • A form of dwarfism
  • Affects bone growth 
  • Incidence unknown
  • Seemingly more common in girls
  • Mutation of the SHOX gene
  • Dominant inheritance pattern

Diagnosis of Léri-Weill Dyschondrosteosis 

  • After birth by:
    • Observation of common physical characteristics
    • X-rays
    • Molecular genetic testing 

What are common characteristics of Léri-Weill Dyschondrosteosis?

  • Short stature 
  • Shortening of lower limbs
  • Abnormality of wrist
  • Sometimes underdevelopment of jaw 
  • Increased muscle mass
  • Bowing of lower leg 
  • Greater angling of elbow from body
  • High arched palate

*Please be aware, not all of the characteristics may be present*

Other information about Léri-Weill Dyschondrosteosis

  • Life expectancy is not affected
  • Intelligence is not affected
  • Can affect boys and girls, more prevalent in girls
  • Similar to Langer Mesomelic Dysplasia

Genetics of Léri-Weill Dyschondrosteosis

  • Autosomal recessive pattern

Dwarfism Genetics Léri Weill Dyschondrosteosis mutation DOMINANT

Additional reading about Léri-Weill Dyschondrosteosis

*Little People UK are not responsible for external website*

What is Langer Mesomelic Dysplasia? 

  • A form of dwarfism
  • Affects bone growth 
  • Incidence unknown
  • Mutation of the SHOX gene
  • Recessive inheritance pattern less than 70 cases 

Diagnosis of Langer Mesomelic Dysplasia 

  • Before birth by: 
    • Observation on scan, confirmed by genetic testing 
  • After birth by:
    • Observation of common physical characteristics
    • X-rays

 

What are common characteristics of Langer Mesomelic Dysplasia?

  • Severe short stature 
  • Shortening of lower limbs
  • Abnormality of wrist
  • Sometimes underdevelopment of jaw 

*Please be aware, not all of the characteristics may be present*

Other information about Langer Mesomelic Dysplasia

  • Life expectancy is not affected
  • Intelligence is not affected
  • Can affect boys and girls
  • Similar to Léri-Weill Dyschondrosteosis

Genetics of Mesomelic Dysplasia

  • Autosomal recessive pattern

Dwarfism Genetics Mesomelic Dysplasia mutation recessive

Additional reading about Langer Mesomelic Dysplasia

*Little People UK are not responsible for external website*

What is Achondrogenesis 1b?

  • Disorder affecting cartilage and bone development 
  • Caused by mutations in the SLC26A2 gene. 
  • Incidence is unknown
  • Also called Parenti-Fraccaro type

Diagnosis of Achondrogenesis 1b

  • Ultrasound
  • Physical characteristics 
  • Fatality 
  • Molecular genetic testing

What are the characteristics of Achondrogenesis 1b?

  • Extremely short limbs 
  • Narrow chest
  • Prominent abdomen
  • Short fingers and toes
  • Possible clubfeet
  • Frequently have umbilical hernia or inguinal hernia

Other information about Achondrogenesis 1b

  • Life expectancy is highly affected 
  • Most sever of all 3 types
  • Distinguished by type 1a with genetic testing
  • Affects males and females equally

Genetics of Achondrogenesis 1b

  • Passed on by a gene from both parents (recessive) 

Dwarfism Genetics Achondrogenesis 1b mutation recessive

Additional reading about Achondrogenesis 1b

What is Achondrogenesis II?

  • Disorders affecting cartilage and bone development 
  • Caused by mutations in the COL2AQ gene. 
  • Occurence is around 1 in 40,000-60,000
  • Also called Langer-Saldino type

Diagnosis of Achondrogenesis II 

  • Ultrasound
  • Physical characteristics 
  • Molecular Genetic tests 

What are the characteristics of Achondrogenesis II?

  • Short limbs 
  • Narrow chest
  • Short ribs 
  • Lack of ‘normal’ ossification 
  • Underdeveloped lungs
  • Distinct facial features e.g. prominent forehead, small chin
  • Possible cleft palate
  • Enlarged abdomen

Other information about Achondrogenesis II

  • Life expectancy is highly affected 
  • Affects males and females equally

Genetics of Achondrogenesis II

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

Dwarfism Genetics Achondrogenesis 2 mutation

Additional reading about Achondrogenesis II

What is Achondrogenesis 1a?

  • Disorder affecting cartilage and bone development 
  • Caused by mutations in the TRIP11 gene. 
  • Incidence is unknown
  • Also called Houston-Harris type

Diagnosis of Achondrogenesis 1a

  • Ultrasound 
  • Radiographic findings
  • Fatality 
  • Physical characteristics 
  • Molecular genetic testing

What are the characteristics of Achondrogenesis 1a?

  • Extremely short limbs 
  • Narrow chest
  • Short ribs 
  • Easily fractured 
  • Lack of ‘normal’ ossification 
  • Fluid accumulation in the body
  • Facial characteristics 

Other information about Achondrogenesis 1a

  • Life expectancy is highly affected 
  • Least well understood of the 3 types
  • Distinguished by type 1b with genetic testing
  • Affects males and females equally

Genetics of Achondrogenesis 1a

  • Passed on by a gene from both parents (recessive) 

Dwarfism Genetics Achondrogenesis 1a mutation recessive

Additional reading about Achondrogenesis 1a

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