Achondroplasia

achondroplasticachondrodysplasiacongenital dwarfismdwarfAchondraplasiaachondroplasicachondroplastic dwarfAchondroplastic dwarfismAchondroplastic dwarves
Achondroplasia is a genetic disorder that results in dwarfism.wikipedia
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Dwarfism

dwarflittle personlittle people
Achondroplasia is a genetic disorder that results in dwarfism.
The most common and recognisable form of dwarfism in humans is the genetic disorder achondroplasia, comprising 70% of cases.

Genetic disorder

genetic diseasegenetic disordersgenetic diseases
Achondroplasia is a genetic disorder that results in dwarfism.
For example, achondroplasia is typically considered as a dominant disorder, but children with two genes for achondroplasia have a severe skeletal disorder of which achondroplasics could be viewed as carriers.

Skull bossing

frontal bossingbossingforehead bulges
Other features include an enlarged head and prominent forehead.

Jyoti Amge

Jyoti Amage
The shortest known adult with the condition is Jyoti Amge at 62.8 cm.
Her restricted height is due to a genetic disorder called achondroplasia.

Spinal stenosis

a narrow spinal canalcongenital cervical stenosisnarrower than average
Efforts to treat or prevent complications such as obesity, hydrocephalus, obstructive sleep apnea, middle ear infections or spinal stenosis may be required.
Causes may include osteoarthritis, rheumatoid arthritis, spinal tumors, trauma, Paget's disease of the bone, scoliosis, spondylolisthesis, and the genetic condition achondroplasia.

Lordosis

lumbar hyperlordosislordoticlumbar lordosis
Achondroplasia (a disorder where bones grow abnormally which can result in short stature as in dwarfism), Spondylolisthesis (a condition in which vertebrae slip forward) and osteoporosis (the most common bone disease in which bone density is lost resulting in bone weakness and increased likelihood of fracture) are some of the most common causes of hyperlordosis.

Lethal allele

lethallethal allelesLethal gene
Those with two affected genes do not typically survive.
Heterozygotes will sometimes display a form of diseased phenotype, as in the case of achondroplasia.

Vosoritide

Tentative evidence as of 2019 has found that vosoritide increases growth velocity.
Vosoritide (INN, codenamed BMN-111) is an experimental drug for the treatment of achondroplasia, the most common cause of dwarfism.

Basset Hound

bassetBasset houndsBassethound
This is the case for the dachshund, basset hound, corgi and bulldog breeds.
Dwarfism of this type in most animals is traditionally known as achondroplasia.

Hypochondroplasia

There are two other syndromes with a genetic basis similar to achondroplasia: hypochondroplasia and thanatophoric dysplasia.

Achondroplasia in children

Achondroplasia falls into the category of “disproportionate dwarfism”.

Fibroblast growth factor receptor 3

FGFR3CD333fibroblast growth factor receptor
Achondroplasia is due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene.
Gain of function mutations in FGFR3 inhibits chondrocyte proliferation and underlies achondroplasia and hypochondroplasia.

Gibbus deformity

gibbus
Another distinct characteristic of the syndrome is thoracolumbar gibbus in infancy.
Gibbus deformity may result from the sail vertebrae associated with cretinism (the childhood form of hypothyroidism), mucopolysaccharidosis (MPS), and certain congenital syndromes, including achondroplasia.

Medical genetics

clinical geneticsmedical geneticistgenomic medicine
Examples of single gene disorders include achondroplasia, cystic fibrosis, Duchenne muscular dystrophy, hereditary breast cancer (BRCA1/2), Huntington disease, Marfan syndrome, Noonan syndrome, and Rett syndrome.

Pseudoachondroplasia

Though similarities in nomenclature may cause confusion, Pseudoachondroplasia should not be confused with achondroplasia, which is a clinically and genetically distinct skeletal dysplasia.

Torso

trunkupper bodyDorsal cutaneous branches
In those with the condition, the arms and legs are short, while the torso is typically of normal length.

Macrocephaly

macrocephaliclarge headan enlarged head
Other features include an enlarged head and prominent forehead.

Intelligence

intelligenthuman intelligencemental capacity
It does not affect intelligence.

Heredity

hereditaryinheritedinheritance
In the other cases, it is inherited from one's parents in an autosomal dominant manner.

Genetic testing

DNA testingDNA analysisDNA test
Diagnosis is generally based on symptoms but may be supported by genetic testing if uncertain.

Support group

support groupssupportself-help group
Treatments may include support groups and growth hormone therapy.

Growth hormone therapy

growth hormone treatmentHGHhuman growth hormone
Treatments may include support groups and growth hormone therapy.

Obesity

obesemorbidly obeseoverweight
Efforts to treat or prevent complications such as obesity, hydrocephalus, obstructive sleep apnea, middle ear infections or spinal stenosis may be required.

Hydrocephalus

hydrocephalyhydrocephalicobstructive hydrocephalus
Efforts to treat or prevent complications such as obesity, hydrocephalus, obstructive sleep apnea, middle ear infections or spinal stenosis may be required.