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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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...
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