Till date about 18 cases of Spondylocostal dysostosis have been reported in literature.

Patients with abnormal cardiac and kidney function may be more at risk for hemolytic uremic syndrome

Majewski's polydactyly syndrome, also known as polydactyly with neonatal chondrodystrophy type I, short rib-polydactyly syndrome type II, and short rib-polydactyly syndrome, is a lethal form of neonatal dwarfism characterized by osteochondrodysplasia (skeletal abnormalities in the development of bone and cartilage) with a narrow thorax, polysyndactyly, disproportionately short tibiae, thorax dysplasia, hypoplastic lungs and respiratory insufficiency. Associated anomalies include protruding abdomen, brachydactyly, peculiar faces, hypoplastic epiglottis, cardiovascular defects, renal cysts, and also genital anomalies. Death occurs before or at birth.

The disease is inherited in an autosomal recessive pattern.

It was characterized in 1971.

Though the children affected with CLSD will have problems throughout life, the treatment for this disease thus far is symptomatic. However, prognosis is good; at the time of the most recently published articles, identified children were still alive at over 4 years of age.

Mutant proteins still maintain some residual activity, allowing for the release of some collagen, but still form an extremely distended endoplasmic reticulum.

Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis. Individuals with Jarcho-Levin typically appear to have a short trunk and neck, with arms appearing relatively long in comparison, and a slightly protuberant abdomen. Severely affected individuals may have life-threatening pulmonary complications due to deformities of the thorax. The syndrome was first described by Saul Jarcho and Paul M. Levin at Johns Hopkins University in 1938.

Cranio–lenticulo–sutural dysplasia (CLSD, or Boyadjiev-Jabs syndrome) is a neonatal/infancy disease caused by a disorder in the 14th chromosome. It is an autosomal recessive disorder, meaning that both recessive genes must be inherited from each parent in order for the disease to manifest itself. The disease causes a significant dilation of the endoplasmic reticulum in fibroblasts of the host with CLSD. Due to the distension of the endoplasmic reticulum, export of proteins (such as collagen) from the cell is disrupted.

The production of SEC23A protein is involved in the pathway of exporting collagen (the COPII pathway), but a missense mutation causes and underproduction of SEC23A which inhibits the pathway, affecting collagen secretion. This decrease in collagen secretion can lead to the bone defects that are also characteristic of the disease, such as skeletal dysplasia and under-ossification. Decreased collagen in CLSD-affected individuals contributes to improper bone formation, because collagen is a major protein in the extracellular matrix and contributes to its proper mineralization in bones. It has also been hypothesized that there are other defects in the genetic code besides SEC23A that contribute to the disorder.

Miller syndrome is a genetic condition also known as the Genee–Wiedemann syndrome, Wildervanck–Smith syndrome, or postaxial acrofacial dystosis. The incidence of this condition is not known, but it is considered extremely rare. It is due to a mutation in the DHODH gene. Nothing is known of its pathogenesis.

The incidence of VACTERL association is estimated to be approximately 1 in 10,000 to 1 in 40,000 live-born infants. It is seen more frequently in infants born to diabetic mothers. While most cases are sporadic, there are clearly families who present with multiple involved members.

The cause of spondylolysis remains unknown, however many factors are thought to contribute to its development. The condition is present in up to 6% of the population, majority of which usually present asymptomatically. Research supports that there are hereditary and acquired risk factors that can make one more susceptible to the defect. The disorder is generally more prevalent in males compared to females, and tends to occur earlier in males due to their involvement in more strenuous activities at a younger age. In a young athlete, the spine is still growing which means there are many ossification centers, leaving points of weakness in the spine. This leaves young athletes at increased risk, particularly when involved in repetitive hyperextension and rotation across the lumbar spine. Spondylolysis is a common cause of low back pain in preadolescents and adolescent athletes, as it accounts for about 50% of all low back pain. It is believed that both repetitive trauma and an inherent genetic weakness can make an individual more susceptible to spondylolysis.

A bifid rib (bifurcated rib or sternum bifidum) is a congenital abnormality of the rib cage and associated muscles and nerves which occurs in about 1.2% of humans. Bifid ribs occur in up to 8.4% of Samoans. The sternal end of the rib is cleaved into two. It is usually unilateral.

Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest X-ray. Effects of this neuroskeletal anomaly can include respiratory difficulties, neurological difficulties, limitations, and limited energy from the stress of needing to compensate for the neurophysiological difficulties. Another association is with odontogenic keratocysts (OKC [a.k.a keratocystic odontogenic tumor (WHO terminology)]) of the jaw which may behave aggressively and have a high propensity to recur when treated with simple enucleation and curettage. When seen together, the patient is likely to have Nevoid Basal Cell Carcinoma Syndrome (a.k.a. Gorlin-Goltz syndrome) and should be evaluated with this in mind.

NBCCS has an incidence of 1 in 50,000 to 150,000 with higher incidence in Australia. One aspect of NBCCS is that basal-cell carcinomas will occur on areas of the body which are not generally exposed to sunlight, such as the palms and soles of the feet and lesions may develop at the base of palmar and plantar pits.

One of the prime features of NBCCS is development of multiple BCCs at an early age, often in the teen years. Each person who has this syndrome is affected to a different degree, some having many more characteristics of the condition than others.

Studies have shown that obesity of the mother increases the risk of neural tube disorders such as iniencephaly by 1.7 fold while severe obesity increases the risk by over 3 fold.

Campomelic dysplasia has a reported incidence of 0.05-0.09 per 10000 live births.

In nearly 95% of the cases, death occurs in the neonatal period due to respiratory distress, generally related to small chest size or insufficient development of the trachea and other upper airway structures.

Among survivors of CMD, the skeletal malformations change over time to include worsening scoliosis or kyphosis resulting in decreased trunk size relative to the limb length. Neurological damage is also often seen including mental retardation and deafness. Even among survivors of the prenatal period, CMD patients have shortened life spans due to lifelong respiratory issues. Those patients with ambiguous genitalia or sex reversal at birth, of course, maintain that state, and are either sterile or have reduced fertility.

Asphyxiating thoracic dysplasia or Jeune syndrome is a ciliopathy.It is also known as "Jeune syndrome".

It was described in 1955.

Sports involving repetitive or forceful hyperextension of the spine, especially when combined with rotation are the main mechanism of injury for spondylolysis. The stress fracture of the pars interarticularis occurs on the side opposite to activity. For instance, for a right-handed player, the fracture occurs on the left side of the vertebrae.

Spondylolysis has a higher occurrence in the following activities:

- Baseball

- Tennis

- Diving

- Cheerleading

- Gymnastics

- Football

- Soccer

- Wrestling

- Weightlifting

- Roller Derby

- Cricket

- Pole Vault

- Rugby

- Volleyball

- Gym

- Ultimate Frisbee (especially during impact from laying out)

Although this condition can be caused by repetitive trauma to the lumbar spine in strenuous sports, other risk factors can also predispose individuals to spondylolsis. Males are more commonly affected by spondylolysis than females. In one study looking at youth athletes, it was found that the mean age of individuals with spondylolisthesis was 20 years of age. Spondylolysis also runs in families suggesting a hereditary component such as a predisposition to weaker vertebrae.

Jeune syndrome is a rare genetic disorder that affects the way a child’s cartilage and bones develop. It begins before the child is born. Jeune syndrome affects the child's rib cage, pelvis, arms and legs.

Usually, problems with the rib cage cause the most serious health problems for children with Jeune syndrome. Their rib cages (thorax) are smaller and narrower than usual. This can keep the child's lungs from developing fully or expanding when the child inhales. The child may breathe rapidly and shallowly. They may have trouble breathing when they have an upper or lower respiratory infection, like pneumonia.

Breathing trouble can range from mild to severe. In some children, it is not noticeable, aside from fast breathing. In most children, breathing problems are serious. About 60% to 70% of children with this condition die from respiratory failure as babies or young children.

Children with Jeune syndrome who survive often develop problems with their kidneys, another serious feature of Jeune syndrome. Over time they may experience renal failure.

As a result, few children with Jeune syndrome live into their teen years.

Children with Jeune syndrome have a form of dwarfism. They are short in stature, and their arms and legs are shorter than most people’s.

Another name for Jeune syndrome is asphyxiating thoracic dystrophy. This diagnosis is grouped with other chest problems called thoracic insufficiency syndrome (TIS).

Once a mother has given birth to a child with iniencephaly, risk of reoccurrence increases to 1-5%.

The differential diagnosis includes Treacher Collins syndrome, Nager acrofacial dysostosis (preaxial cranial dysostosis). Other types of axial cranial dysostosis included the Kelly, Reynolds, Arens (Tel Aviv), Rodríguez (Madrid), Richieri-Costa and Patterson-Stevenson-Fontaine forms.

Short rib – polydactyly syndrome is a family of four closely related dysplasias:

- I - "Saldino-Noonan type"

- II - "Majewski type"

- III - "Verma-Naumoff type" (associated with DYNC2H1)

- IV - "Beemer-Langer type"

As of 2017, approximately 800 cases of FOP have been confirmed worldwide making FOP one of the rarest diseases known. The estimated incidence of FOP is 0.5 cases per million people and affects all races.

The cause is not currently known, and the condition appears to be multifactorial. Several candidate genes (such as FBN1, which has been associated with Marfan) have been proposed and excluded.

Rachitic rosary is due to a deficiency of calcium resulting in lack of mineralization and an overgrowth of costochondral joint cartilage. The calcium deficiency may be caused by Rickets or other causes of calcium deficiency such as hypoparathyroidism.

Congenital vertebral anomalies are a collection of malformations of the spine. Most around 85% are not clinically significant, but they can cause compression of the spinal cord by deforming the vertebral canal or causing instability. This condition occurs in the womb. Congenital vertebral anomalies include alterations of the shape and number of vertebrae.

A pelvic digit, pelvic finger, or pelvic rib is a rare congenital abnormality in humans, in which bone tissue develops in the soft tissue near the pelvis, resembling a rib or finger and often divided into one or more segments with pseudo-articulations. Pelvic digits are typically benign and asymptomatic, and are usually discovered accidentally. Approximately 41 cases have been reported.

The pelvic digit was first reported by D. Sullivan and W.S. Cornwell in 1974. Pelvic digits may be located at any level of the pelvis, the lower ribs, or even the anterior abdominal wall. It is theorized that pelvic digit anomalies arise during the mesenchymal stage of bone growth, within the first six weeks of embryogenesis. Their formation may result from a failure of the primordium of the coccyx to fuse to the vertebral column, leading to the independent development of a proto-rib structure.

It is thought to have an estimated incidence of 1 in 75,000 people.