Types of Dwarfism
Bodies come in all shapes and sizes. There are over 200 different types of dwarfism. Many conditions of dwarfism can have some medical complications, but most people have an average life expectancy and are productive members of society.
Eighty percent of people with dwarfism have average height parents and siblings. Some types of dwarfism are simply a genetic change at conception, which happen to have very visisble results. Some can be inherited genetically from one or both parents.
A child with dwarfism is born 1 per 25,000 births. Very few doctos know much about the various dwarfism conditions. It is important to find a doctor who specialises in dwarfism for ongoing care, especially if there are any medical or orthopaedic complications.
Here are the various types of Dwarfism:
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Achondrogenesis
They are a group of disorders affecting cartilage and bone development There are thought to be 3 types - Achondrogenesis 1A Achondrogenesis 1B Achondrogenesis II They are distinguished...
Achondrogenesis 1a
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 1b
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 II
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...
Achondroplasia
What is Achondroplasia? A form of dwarfism (skeletal dysplasia) Affects bone growth Can be caused by a mutation in the FGFR3 gene Can be inherited from parents who also have achondroplasia...
Acromesomelic Dysplasia
What is Acromesomelic Dysplasia? A form of dwarfism (skeletal dysplasia) Affects cartilage and bone development Mainly affects the forearms, lower legs and bones in the hands and feet Thought...
Chondrodysplasia Punctata
Chondrodysplasia Punctata can be split into three different types, each having different characteristics, they are: Rhizomelic Chondrodysplasia Punctata X-linked Chondrodysplasia Punctata 1...
Diastrophic Dysplasia
What is Diastrophic Dysplasia? A form of dwarfism (skeletal dysplasia) Affects bone growth and development Caused by a mutation in the SLCA26A2 gene Thought to occur 1 in every 100,000...
Ellis–van Creveld Syndrome
What is Ellis–van Creveld Syndrome? A form of dwarfism (skeletal dysplasia) Incidence occurs 1 in 60,000 to 200,00 More prevalent in Amish communities Caused by mutation in the EVC and...
Hypochondroplasia
What is Hypochondroplasia? A form of dwarfism (skeletal dysplasia) Affects conversion of cartilage in to bone growth Caused by a mutation in the FGFR3 gene Incidence...
Kneist Dysplasia
What is Kniest Dysplasia? A form of dwarfism Affects bone growth Average height of an adult is 42 inches to 58 inches Exact incidence unknown Mutation in the COL2A1 gene Diagnosis of Kniest...
Langer Mesomelic Dysplasia
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...
Léri-Weill Dyschondrosteosis
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...
McKusick Type (Cartilage-hair Hypoplasia)
What is Metaphyseal Chondrodysplasia McKusic Type (Cartilage-hair Hypoplasia)? Disorder of bone growth resulting in dwarfism (Skeletal Dysplasia) Caused by mutations in the RMRP gene ...
Meier-Gorlin Syndrome
What is Meier-Gorlin Syndrome? A form of dwarfism Prevalence unknown, considered rare Occurs as a result of mutation in the ORC1, ORC4, ORC6, CDT1 and CDC6 gene Diagnosis of Meier-Gorlin Syndrome...
Metaphyseal Chondrodysplasia
Metaphyseal Chondrodysplasias are split into two different types, each having different characteristics, they are: Schimd Type McKusick Type (Cartilage-hair Hypoplasia)
Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
What is Microcephalic Osteodysplastic Primordial Dwarfism Type I/III? A form of dwarfism Prevalence unknown, however considered very rare Thought to occur as a result of mutation in the RNU4ATAC...
Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII)
What is MOPDII? A form of dwarfism Prevalence unknown, however considered very rare Occurs as a result of mutation in the PCNT gene Adult height ranges from 20 inches to 40 inches Diagnosis of...
Morquio Syndrome
What is Morquio Syndrome? A mucopolysaccharide storage condition There are two subdivisions of Morquio - Morquio Syndrome A and Morquio Syndrome B Deficiency of the enzymes...
Multiple Epiphyseal Dysplasia
What is Multiple Epiphyseal Dysplasia? A form of dwarfism Affects cartilage and bone development primarily the long bones (epiphyses) Average height of an adult is between 145cm and 170cm Two...
Osteogenesis Imperfecta
What is Osteogenesis Imperfecta? A genetic disorder affecting the bones Occurs in 6 to 7 per 100,000 There are at least eight types Caused by mutation in the COL1A1, COL1A2, CRTAP...
Primordial Dwarfism
A group of different types of dwarfism that result in small stature, from birth to adulthood. There is no specific test to determine diagnosis of Primordial Dwarfism however observation of...
Pseudoachondroplasia
What is Pseudoachondroplasia? A form of dwarfism (skeletal dysplasia) Affects bone growth and development Caused by a mutation in the COMP genes Exact incidence unknown thought to occur 1 in every...
Rhizomelic Chondrodysplasia Punctata
What is Rhizomelic Chondrodysplasia Punctata? A form of dwarfism (skeletal dysplasia) A result on inefficient enzyme activity Can be caused by a mutation in the PEX7, GNPAT, AGPS gene Affects...
Russell-Silver Syndrome
What is Russell-Silver Syndrome A form of dwarfism Characterised by slow growth before and after birth Average height of an adult is Male 4 feet, 11 inches Female 4 feet 7 inches incidence is...
Seckel Syndrome
What is Seckel Syndrome? A form of dwarfism Prevalence unknown Occurs as a result of mutations on the chromosomes 3, 18 and 14 Can be split into 8 subtypes Diagnosis of Seckel Syndrome After...
Spondyloepimetaphyseal Dysplasia (SEMD)
What is Spondyloepimetaphyseal Dysplasia (SEMD), Strudwick Type? A form of dwarfism (skeletal dysplasia) Affects bone growth Linked to Chromosome 12q13 Can be caused by a mutation in the COL2A1 gene...
Spondyloepiphyseal Dysplasia congenita (SEDc)
What is Spondyloepiphyseal Dysplasia, Congenita (SEDc)? A form of dwarfism (skeletal dysplasia) Adult height ranges from 3 feet to just over 4 feet Caused by a mutation in the COL2A1 gene Thought to...
Spondyloperipheral Dysplasia
What is Spondyloperipheral Dysplasia? A form of dwarfism (skeletal dysplasia) Affects bone growth Can be caused by a mutation in the COL2A1 gene Incidence not known, only a few affected people...
Thanatophoric Dysplasia
What is Thanatophoric Dysplasia? A form of dwarfism (skeletal dysplasia) Occurs in 1 in 20,000 to 50,000 It is split into Type I and Type II Type I is more common Caused by mutation in the...
Turner Syndrome
What is Turner Syndrome? A form of dwarfism Affects approximately 1 in every 2,000 Only affects girls Occurs as a result of missing chromosomes Adult height of approximately 4 foot 7...
Types of Dwarfism
Bodies come in all shapes and sizes. There are over 200 different types of dwarfism. Many conditions of dwarfism can have some medical complications, but most people have an average life expectancy...
X-linked Chondrodysplasia Punctata 1
What is X-linked Chondrodysplasia Punctata 1? A form of dwarfism (skeletal dysplasia) Affect cartilage and bone development Caused by alteration in ARSE gene Incidence unknown Diagnosis...
X-linked Chondrodysplasia Punctata 2 (Conradi-Hünermann-Happle syndrome)
What is X-linked Chondrodysplasia Punctata 2? A form of dwarfism (skeletal dysplasia) Affects bone, skin and eye abnormalities Caused by mutation in EBP gene Estimated to affect fewer...