The disorder is progressive, with the ultimate severity of symptoms often depending on age of onset. In severe cases amputation has been performed when conservative measures such as physical therapy and regional anesthetics have been ineffective.

Osteofibrous dysplasia is treated with marginal resection with or without bone grafting, depending on the size of the lesion and the extent of bony involvement. However, due to the high rate of recurrence in skeletally immature individuals, this procedure is usually postponed until skeletal maturity.

Polyostotic fibrous dysplasia is a form of fibrous dysplasia affecting more than one bone.

McCune-Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation.

One treatment that has been used is bisphosphonates.

Pacman dysplasia (alternatively known as epiphyseal stippling with osteoclastic hyperplasia) is a lethal autosomal recessive skeletal dysplasia. The dysplasia is present during fetal development.

Spondyloepimetaphyseal dysplasia is a genetic condition affecting the bones.

Types include:

- Spondyloepimetaphyseal dysplasia, Strudwick type

- Spondyloepiphyseal dysplasia congenita

- Spondyloepimetaphyseal dysplasia, Pakistani type

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

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.

Ischiopatellar dysplasia is sometimes referred to as Scott-Taor syndrome after the researchers who first described ischiopatellar dysplasia as they recognized it in a family as an autosomal dominant disorder in 1979. This finding was important as they were the first to note that it was a benign disorder that is separate from the more severe nail-patella syndrome. Other common names for ischiopatellar syndrome are small patella syndrome (SPS), since the patellae are often small or absent in patients who have this syndrome, and coxo-podo-patellaire syndrome.

In utero exposure to cocaine and other street drugs can lead to septo-optic dysplasia.

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

Osteofibrous dysplasia (also known as ossifying fibroma) is a rare, benign non-neoplastic condition with no known cause. It is considered a fibrovascular defect. Campanacci described this condition in two leg bones, the tibia and fibula, and coined the term. This condition should be differentiated from Nonossifying fibroma and fibrous dysplasia of bone.

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.

All cases reported appear to represent sporadic occurrence. There is no specific inheritance pattern. The male-to-female ratio of affected is 1.8:1 and is often diagnosed before the age of 9. The disorder affects the right and left sides of the maxilla almost equally.

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.

Melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which the bony cortex widens and becomes hyperdense in a sclerotomal distribution. The condition begins in childhood and is characterized by thickening of the bones. Pain is a frequent symptom and the bone can have the appearance of dripping candle wax.

Like treatment options, the prognosis is dependent on the severity of the symptoms. Despite the various symptoms and limitations, most individuals have normal intelligence and can lead a normal life.

Treatment in fibrous dysplasia is mainly palliative, and is focused on managing fractures and preventing deformity. There are no medications capable of altering the disease course. Intravenous bisphosphonates may be helpful for treatment of bone pain, but there is no clear evidence that they strengthen bone lesions or prevent fractures. Surgical techniques that are effective in other disorders, such as bone grafting, curettage, and plates and screws, are frequently ineffective in fibrous dysplasia and should be avoided. Intramedullary rods are generally preferred for management of fractures and deformity in the lower extremities. Progressive scoliosis can generally be managed with standard instrumentation and fusion techniques. Surgical management in the craniofacial skeleton is complicated by frequent post-operative FD regrowth, and should focus on correction of functional deformities. Prophylactic optic nerve decompression increases the risk of vision loss and is contraindicated.

Managing endocrinopathies is a critical component of management in FD. All patients with fibrous dysplasia should be evaluated and treated for endocrine diseases associated with McCune–Albright syndrome. In particular untreated growth hormone excess may worsen craniofacial fibrous dysplasia and increase the risk of blindness. Untreated hypophosphatemia increases bone pain and risk of fractures.

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.

Monostotic fibrous dysplasia (or monostotic osteitis fibrosa) is a form of fibrous dysplasia where only one bone is involved. It comprises a majority of the cases of fibrous dysplasia.

A rare bone disorder characterized by benign bone growths which can cause very painful swellings and bone deformities and makes bone prone to fractures.

Modeling EEC syndrome in vitro has been achieved by reprogramming EEC fibroblasts carrying mutations R304W and R204W into induced pluripotent stem cell (iPSC) lines. EEC-iPSC recapitulated defective epidermal and corneal fates. This model further identified PRIMA-1MET, a small compound that was identified as a compound targeting and reactivating p53 mutants based on a cell-based screening for rescuing the apoptotic activity of p53, as efficient to rescue R304W mutation defect. Of interest, similar effect had been observed on keratinocytes derived from the same patients. PRIMA-1MET could become an effective therapeutic tool for EEC patients.

Further genetic research is necessary to identify and rule out other possible loci contributing to EEC syndrome, though it seems certain that disruption of the p63 gene is involved to some extent. In addition, genetic research with an emphasis on genetic syndrome differentiation should prove to be very useful in distinguishing between syndromes that present with very similar clinical findings. There is much debate in current literature regarding clinical markers for syndromic diagnoses. Genetic findings could have great implications in clinical diagnosis and treatment of not only EEC, but also many other related syndromes.

There is no causative / curative therapy. Symptomatic medical treatments are focussing on symptoms caused by orthopaedic, dental or cardiac problems. Regarding perioperative / anesthesiological management, recommendations for medical professionals are published at OrphanAnesthesia.

It is a rare developmental disorder that affects maxilla, also known as the upper jaw in most vertebrates. The disorder is often diagnosed in early childhood. Since its original description as hemimaxillofacial dysplasia by doctors in 1987, less than 40 cases have been reported in the English literature.

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.

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis. It is also known as Greenberg dysplasia. Greenberg characterized the condition in 1988.

It has been associated with the lamin B receptor.