Achondroplasia is one of 19 congenital conditions with similar presentations, such as osteogenesis imperfecta, multiple epiphyseal dysplasia tarda, achondrogenesis, osteopetrosis, and thanatophoric dysplasia. This makes estimates of prevalence difficult, with changing and subjective diagnostic criteria over time. One detailed and long-running study in the Netherlands found that the prevalence determined at birth was only 1.3 per 100,000 live births. Another study at the same time found a rate of 1 per 10,000.

Gene based therapy is being studied. In June 2015, BioMarin announced positive results of their Phase 2 study, stating that 10 children experienced a mean increase of 50% in their annualized growth velocity.

It is thought that chondrodystrophy is caused by an autosomal, recessive allele. To avoid a potential "lethal dose," both parents must submit to genetic testing. If a child is conceived with another carrier the outcome may be lethal, or the child may suffer from chondrodystrophy or dwarfism. This means that even though both parents are completely normal in height, the child will have one of the two types of skeletal dysplasia. Type 1 (short limb dysplasia), the more common of the two, is characterised by a long trunk and extremely shortened extremities. Type 2, short-trunk dysplasia, is characterised by a shortened trunk and normal size extremities. Those affected by chondrodystrophy may also experience metabolic and hormonal disorders, both of which may be monitored and controlled by hormonal injections.

Animals have been bred specifically to elicit chondrodystrophic traits for research purposes and to more easily allow animals to free-roam without escaping by, for example, jumping over ranch fences. One example of this is the Ancon sheep, which was first bred from a lamb born in 1791 with naturally occurring chondrodystrophy.

A recent article in 2015 reported a persistent notochord in a fetus at 23 weeks of gestation. The fetus had an abnormal spine, shortened long bones and a left clubfoot. After running postmortem tests and ultrasound, the researchers believed that the fetus suffered from hypochondrogenesis. Hypochondrogenesis is caused when type II collagen is abnormally formed due to a mutation in the COL2A1 gene. Normally, the cartilaginous notochord develops into the bony vertebrae in a human body. The COL2A1 gene results in malformed type II collagen, which is essential in the transition from collagen to bone. This is the first time that researchers found a persistent notochord in a human body due to a COL2A1 mutation.

Osteogenesis imperfecta is a rare condition in which bones break easily. There are multiple genetic mutations in different genes for collagen that may result in this condition. It can be treated with some drugs to promote bone growth, by surgically implanting metal rods in long bones to strengthen them, and through physical therapy and medical devices to improve mobility.

The term thanatophoric is Greek for "death bearing". Children with this condition are usually stillborn or die shortly after birth from respiratory failure, however a small number of individuals have survived into childhood and a very few beyond. Survivors have difficulty breathing on their own and require respiratory support such as high flow oxygen through a canula or ventilator support via tracheostomy. There may also be evidence of spinal stenosis and seizures.

The oldest known living TD survivor is a 29-year-old female. One male lived to be 26 years old. Another male lived to age 20. TD survivor, Chrisopher Álvarez, 18, is Colombian living in New York. Two children with TD aged 10 and 12, a male and a female, are known in Germany. There is also a 6-year-old male living with TD and two 1-year old males.

Both average parents

1.) A couple already has a child with chondrodystrophy; the risk of inheritance for the next child to have the disorder is 0.1% (less than 1 in 1,000)

2.) The risk that the normal-statured child will have at least one offspring with this disorder is 0.01% (less than 1 in 10,000)

One parent with chondrodystrophy and one parent without

1.) One child with normal height; the probability of that child having offspring with chondrodystrophy is 0.01% (less than 1 in 10,000)

2.) One child with normal stature; the probability of the next having chondrodystrophy is 50% (1 in 2)

3.) One child with normal stature; the probability of the next not having chondrodystrophy is 50% (1 in 2)

Both parents with chondrodystrophy

1.) The probability of offspring affected by chondrodystrophy is 100% (4 in 4)

2.) The probability of offspring to be of normal size is 0% (0 in 4)

Early journal reports of boomerang dysplasia suggested X-linked recessive inheritance, based on observation and family history. It was later discovered, however, that the disorder is actually caused by a genetic mutation fitting an autosomal dominant genetic profile.

Autosomal dominant inheritance indicates that the defective gene responsible for a disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

Boomerang dysplasia, although an autosomal dominant disorder, is "not" inherited because those afflicted do not live beyond infancy. They cannot pass the gene to the next generation.

Fibrochondrogenesis is quite rare. A 1996 study from Spain determined a national minimal prevalence for the disorder at 8 cases out of 1,158,067 live births.

A United Arab Emirates (UAE) University report, from early 2003, evaluated the results of a 5-year study on the occurrence of a broad range of osteochondrodysplasias. Out of 38,048 newborns in Al Ain, over the course of the study period, fibrochondrogenesis was found to be the most common of the recessive forms of osteochondrodysplasia, with a prevalence ratio of 1.05:10,000 births.

While these results represented the most common occurrence within the group studied, they do not dispute the rarity of fibrochondrogenesis. The study also included the high rate of consanguinous marriages as a prevailing factor for these disorders, as well as the extremely low rate of diagnosis-related pregnancy terminations throughout the region.

Parastremmatic dwarfism is apparent at birth, with affected infants usually being described as "stiff", or as "twisted dwarfs" when the skeletal deformities and appearance of dwarfism further present themselves. Skeletal deformities usually develop in the sixth to twelfth month of an infant's life. The deformities may be attributed to osteomalacia, a lack of bone mineralization.

Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the "COL2A1" gene. The protein made by this gene forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). Type II collagen is essential for the normal development of bones and other connective tissues. Mutations in the "COL2A1" gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition.

Spondyloepiphyseal dysplasia congenita is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.

It can be associated with missense mutations in fibroblast growth factor receptor-3. It is inherited in an autosomal dominant manner.

Life expectancy for individuals with hypochondroplasia is normal; the maximum height is about 147 cm or 4.8 ft.

Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of bones (epiphyses), and that it is present from birth (congenital). The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis. Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI.

Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type of scoliosis that affects the upper back), a distortion and twisting of the limbs, contractures of the large joints, malformations of the vertebrae and pelvis, and incontinence. The disease was first reported in 1970 by Leonard Langer and associates; they used the term "parastremmatic" from the Greek "parastremma", or "distorted limbs", to describe it. On X-rays, the disease is distinguished by a "flocky" or lace-like appearance to the bones. The disease is congenital, which means it is apparent at birth. It is caused by a mutation in the "TRPV4" gene, located on chromosome 12 in humans. The disease is inherited in an autosomal dominant manner.

This condition is one of a spectrum of skeletal disorders caused by mutations in the "COL2A1" gene. The protein made by this gene forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). Type II collagen is essential for the normal development of bones and other connective tissues. Mutations in the "COL2A1" gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition.

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.

Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene ("FGFR3") that results in a disproportionately short stature, micromelia, and a head that appears large in comparison with the underdeveloped portions of the body, it is classified as short-limbed dwarfism.

Fibrochondrogenesis is a rare autosomal recessive form of osteochondrodysplasia, causing abnormal fibrous development of cartilage and related tissues.

It is a lethal rhizomelic (malformations which result in short, underdeveloped limbs) form of dwarfism, exhibiting both skeletal dysplasia (malformations of bone) and fibroblastic dysplasia (abnormal development of fibroblasts, specialized cells that make up fibrous connective tissue, which plays a role in the formation of cellular structure and promotes healing of damaged tissues). Death caused by complications of fibrochondrogenesis occurs in infancy.

Mutations in the "Filamin B (FLNB)" gene cause boomerang dysplasia. FLNB is a cytoplasmic protein that regulates intracellular communication and signalling by cross-linking the protein actin to allow direct communication between the cell membrane and cytoskeletal network, to control and guide proper skeletal development. Disruptions in this pathway, caused by FLNB mutations, result in the bone and cartilage abnormalities associated with boomerang dysplasia.

Chondrocytes, which also have a role in bone development, are susceptible to these disruptions and either fail to undergo ossification, or ossify incorrectly.

FLNB mutations are involved in a spectrum of lethal bone dysplasias. One such disorder, atelosteogenesis type I, is very similar to boomerang dysplasia, and several symptoms of both often overlap.

Kniest Dysplasia is an autosomal dominant condition. This means that the person only needs to have one copy of the mutated gene in order to have the condition. People with a family history are at a higher risk of having the disease than people with no family history. A random mutation in the gene can cause a person with no family history to also have the condition.

This is an autosomal recessive osteochondrodysplasia that maps to chromosome 1q21. Deficiency of Cathepsin K, a cysteine protease in osteoclasts, is known to cause this condition. Cathepsin K became a much sought-after drug target in osteoporosis after the cause of pycnodysostosis was discovered. The disease consistently causes short stature. The height of adult males with the disease is less than . Adult females with the syndrome are even shorter.

The disease has been named Toulouse-Lautrec syndrome, after the French artist Henri de Toulouse-Lautrec, who may have had the disease. In 1996, the defective gene responsible for pycnodysostosis was located, offering accurate diagnosis, carrier testing and a more thorough understanding of this disorder.

"Achondroplasia" is a type of autosomal dominant genetic disorder that is the most common cause of dwarfism. Achondroplastic dwarfs have short stature, with an average adult height of 131 cm (4 feet, 3 inches) for males and 123 cm (4 feet, 0 inches) for females.

The prevalence is approximately 1 in 25,000 births.

Many types of dwarfism are currently impossible to prevent because they are genetically caused. Genetic conditions that cause dwarfism may be identified with genetic testing, by screening for the specific variations that result in the condition. However, due to the number of causes of dwarfism, it may be impossible to determine definitively if a child will be born with dwarfism.

Dwarfism resulting from malnutrition or a hormonal abnormality may be treated with an appropriate diet or hormonal therapy. Growth hormone deficiency may be remedied via injections of human growth hormone (HGH) during early life.

Perinatal and infantile hypophosphatasia are inherited as autosomal recessive traits with homozygosity or compound heterozygosity for two defective TNSALP alleles. The mode of inheritance for childhood, adult, and odonto forms of hypophosphatasia can be either autosomal dominant or recessive. Autosomal transmission accounts for the fact that the disease affects males and females with equal frequency. Genetic counseling is complicated by the disease’s variable inheritance pattern, and by incomplete penetration of the trait.

Hypophosphatasia is a rare disease that has been reported worldwide and appears to affect individuals of all ethnicities. The prevalence of severe hypophosphatasia is estimated to be 1:100,000 in a population of largely Anglo-Saxon origin. The frequency of mild hypophosphatasia is more challenging to assess because the symptoms may escape notice or be misdiagnosed. The highest incidence of hypophosphatasia has been reported in the Mennonite population in Manitoba, Canada where one in every 25 individuals are considered carriers and one in every 2,500 newborns exhibits severe disease. Hypophosphatasia is considered particularly rare in people of African ancestry in the U.S.

The mutated gene responsible for the disorder is the FGFR3 gene, more specifically; a Lys650Met missense mutation of the FGFR3 gene is what causes SADDAN. This gene codes for the instructions of a protein that is integral in the development and maintenance of bone and brain tissue. Mutations of this gene cause the protein to be overly active, causing many characteristics of this disorder.

SADDAN is an autosomal dominant genetic disorder. Autosomal means that the gene responsible for the mutation and disorder is found on a non-sex chromosome and that either the mother or father can pass on the gene, while dominant means that only one copy of the gene is required for the individual to have the disorder.

Fortunately the disorder is very rare and has only been described in a few number of cases worldwide. While the disorder can be genetically inherited, no instances of inheritance have been recorded as of yet. Rather, of the few cases documented, the individual affected by the disorder is affected as a product of a random mutation, also called a de novo mutation, of the FGFR3 gene only, not by inheritance of the mutated gene.