This disorder is present at birth, however, it may not be understood until several years after birth. Acrodysostosis affects males and females in almost similar numbers. It is difficult to determine the frequency of acrodysostosis in the population as many cases of this disorder cannot be diagnosed properly.

The incidence is less than 1/1.000.000. Fewer than 50 cases have been reported so far.

SCS is the most common craniosynostosis syndrome and affects 1 in every 25,000 to 50,000 individuals. It occurs in all racial and ethnic groups, and affects males and females equally. If a parent carries a copy of the SCS gene mutation, then there is a 50% chance their child will also carry a copy of the gene mutation, in which case, the child may or may not show signs of SCS. There is also a 50% chance their child will have two working copies of the gene, and would therefore, not have SCS. If both parents carry a single copy of the SCS gene mutation, then there is a 25% chance their child will have two gene mutation copies (so child would develop severe SCS), a 25% chance their child would have two normal copies of the gene (so would be completely normal), and a 50% chance their child would carry one gene mutation copy and 1 normal copy (so child may or may not display SCS). In rare situations, two normal parents can have a child with SCS due to a "de novo" mutation. The exact cause of the "de novo" mutation is unknown, but it doesn't seem to be related to anything that the parents did or didn't do during the pregnancy. SCS due to a "de novo" mutation is so rare that the proportion of past cases is unknown.

At the core of the disorder there is a homozygous or compound heterozygous mutation or deletion of the SHOX (Short Stature Homeobox), SHOXY (Short Stature Homeobox Y-linked) or PAR1 (where SHOX enhancer elements are located) genes, which is inherited in a pseudosomal recessive manner.

Acrodysostosis also known as Arkless-Graham syndrome or Maroteaux-Malamut syndrome is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.

Most reported cases have been sporadic, but it has been suggested that the condition might be genetically related i.e. in an autosomal dominant mode of transmission. Both males and females are affected. The disorder has been associated with the older age of parents at the time of conception.

A PRKAR1A mutation has been identified in acrodysostosis with hormone resistance.

A jaw abnormality is disorder in the formation or shape of the jaw. It can involve malocclusion.

Types include:

- Micrognathism

- Prognathism

- Retrognathism

- Pierre Robin syndrome

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

CDGP is not associated with increased mortality because it is a variant of normal growth rather than a disease. However, in some affected individuals, it can be associated with significant psychological stress, resulting in poor self-image and social withdrawal. In recent years, researchers have also found that individuals with CDGP may be at increased risk for reduced bone mass in adulthood because of the delay in sex steroid influence on bone accrual during adolescence.

Although the epidemiologic data indicate that all variants of normal growth are twice as common in boys as in girls, referrals for short stature reflect an even more divergent sex ratio. This likely reflects greater concern about males who are shorter than their peers or who have delayed sexual development.

No racial bias has been identified. Patterns of growth consistent with CDGP occur in infants as young as 3–6 months. However, individuals often do not seek medical attention until puberty, when lack of sexual development becomes a concern and discrepancy in height from peers is magnified by the delay in pubertal growth spurt.

It is caused by mutations in the SHOX gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes, at band Xp22.33 or Yp11.32.

SHOX gene deletions have been identified as the major cause of Leri–Weill syndrome.

Leri–Weill dyschondrosteosis is characterized by mesomelic short stature, with bowing of the radius more so than the ulna in the forearms and bowing of the tibia while sparing the fibula.

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.

Stratton parker syndrome is a rare disorder characterized by short stature, wormian bones (extra cranial bones), and dextrocardia (displaced heart). Other symptoms include dermatoglyphics, tooth deformities or missing teeth, abnormal kidney development, shortened limbs, mental retardation, undescended testes or cryptorchidism, and anal atresia. The condition was first described by Stratton and Parker in 1989, and there have been only four reported cases worldwide. Two cases of the syndrome were reported by Gilles-Eric Seralini in 2010 after having been contacted in January 2009.

Alternative names include "Growth Hormone Deficiency with Wormian Bones, Cardiac Anomaly, and Brachycamptodactyly" and "Short stature wormian bones dextrocardia"

Prenatal diagnosis of Saethre-Chotzen Syndrome in high risk pregnancies is doable, but very uncommon and rarely performed. Furthermore, this is only possible if the mutation causing the disease has already been identified within the family genome. There are a few different techniques in which prenatal testing can be carried out. Prenatal testing is usually performed around 15–18 weeks, using amniocentesis to extract DNA from the fetus's cells. Prenatal testing can also be performed during weeks 10-12 using chorionic villus sampling (CVS) to extract DNA from the fetus. Recently, there has been an increased interest in utilizing ultrasound equipment in order to detect fetal skull abnormalities due to immature fusion of the cranial sutures.

Exner syndrome, also known as "serpentine fibula polycystic kidney syndrome", is a rare disorder, typified by the afflicted person having oddly formed, s-shaped fibulas as well as the development of numerous cysts in the kidneys.

Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature. Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out.

According to the disease database, Acromicric dysplasia is synonymous with Geleophysic dysplasia

(or Geleophysic Dwarfism) and Focal mucopolysaccharidosis.

Retrognathia (or retrognathism) is a type of malocclusion which refers to an abnormal posterior positioning of the maxilla or mandible, particularly the mandible, relative to the facial skeleton and soft tissues.

A retrognathic mandible is commonly referred to as an overbite, though this terminology is not used medically.

In disease states, maxillary prognathism is associated with Cornelia de Lange syndrome; however, so-called false maxillary prognathism, or more accurately, retrognathism, where there is a lack of growth of the mandible, is by far a more common condition.

Prognathism, if not extremely severe, can be treated in growing patients with orthodontic functional or orthopaedic appliances. In adult patients this condition can be corrected by means of a combined surgical/orthodontic treatment, where most of the time a mandibular advancement is performed. The same can be said for mandibular prognathism.

Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity).

Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they observed dislocation of the large joints and face anomalies in six of their patients. Patients with Larsen syndrome normally present with a variety of symptoms, including congenital anterior dislocation of the knees, dislocation of the hips and elbows, flattened facial appearance, prominent foreheads, and depressed nasal bridges. Larsen syndrome can also cause a variety of cardiovascular and orthopedic abnormalities. This rare disorder is caused by a genetic defect in the gene encoding filamin B, a cytoplasmic protein that is important in regulating the structure and activity of the cytoskeleton. The gene that influences the emergence of Larsen syndrome is found in chromosome region, 3p21.1-14.1, a region containing human type VII collagen gene. Larsen syndrome has recently been described as a mesenchyme disorder that affects the connective tissue of an individual. Autosomal dominant and recessive forms of the disorder have been reported, although most cases are autosomal dominant. Reports have found that in Western societies, Larsen syndrome can be found in one in every 100,000 births, but this is most likely an underestimate because the disorder is frequently unrecognized or misdiagnosed.

Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth. The condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly). Some affected individuals also have other skeletal abnormalities, short stature, nearsightedness (myopia), hearing loss, and mental retardation. Spondyloperipheral dysplasia is a subtype of collagenopathy, types II and XI.

Spondyloepimetaphyseal dysplasia, Pakistani type is a form of spondyloepimetaphyseal dysplasia involving "PAPSS2" (also known as "ATPSK2"). The condition is rare.

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.

Acrofrontofacionasal dysostosis is an extremely rare disorder, characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia, and anomalies of foot structure.

Not all alveolar prognathism is anomalous, and significant differences can be observed among different ethnic groups.

Harmful habits such as thumb sucking or tongue thrusting can result in or exaggerate an alveolar prognathism, causing teeth to misalign. Functional appliances can be used in growing children to help modify bad habits and neuro-muscular function, with the aim of correcting this condition.

Alveolar prognathism can also easily be corrected with fixed orthodontic therapy. However, relapse is quite common, unless the cause is removed or a long-term retention is used.

Filamins are cytoplasmic proteins that regulate the structure and activity of the cytoskeleton. These proteins serve as scaffolds on which intracellular signaling and protein trafficking are organized. Filamin B has been found to be expressed in human growth plate chondrocytes, which are especially important in vertebrae segmentation and skeleton morphogenesis. Genetic analysis of patients with Larsen syndrome has found the syndrome is caused by missense mutations in the gene that codes for filamin B. These mutations cause an accelerated rate of apoptosis in the epiphyseal growth plates of individuals with the mutation. The defects can cause short stature and other symptoms associated with Larsen syndrome.