The overall prognosis is excellent in most cases. Most children with Adams–Oliver syndrome can likely expect to have a normal life span. However, individuals with more severe scalp and cranial defects may experience complications such as hemorrhage and meningitis, leading to long-term disability.

AOS is a rare genetic disorder and the annual incidence or overall prevalence of AOS is unknown. Approximately 100 individuals with this disorder have been reported in the medical literature.

Unlike other autoinflammatory disorders, patients with CANDLE do not respond to IL-1 inhibition treatment in order to stop the autoinflammatory response altogether. This suggests that the condition also involves IFN dysregulation.

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

Cystic fibrosis-related diabetes (CFRD) is diabetes specifically caused by cystic fibrosis, a genetic condition. Cystic fibrosis related diabetes mellitus (CFRD) develops with age, and the median age at diagnosis is 21 years.

Babies born with Jarcho-Levin may be very healthy and grow up to lead normal lives. However, many individuals with Jarcho-Levin suffer from problems of respiratory insufficiency secondary to volume-restricted thoraces. These individuals will often develop pulmonary complications and die in infancy or early childhood. The disparity in outcomes of those with the syndrome is related to the fact that Jarcho-Levin actually encompasses two or more distinct syndromes, each with its own range of prognoses. The syndromes currently recognized as subtypes of Jarcho-Levin are termed spondylothoracic dysplasia and spondylocostal dysostosis. The disease is related to the SRRT gene.

By age 3 about 30% of rats have had cancer, whereas by age 85 about 30% of humans have had cancer. Humans, dogs and rabbits get Alzheimer's disease, but rodents do not. Elderly rodents typically die of cancer or kidney disease, but not of cardiovascular disease. In humans, the relative incidence of cancer increases exponentially with age for most cancers, but levels off or may even decline by age 60–75 (although colon/rectal cancer continues to increase).

People with the so-called segmental progerias are vulnerable to different sets of diseases. Those with Werner's syndrome suffer from osteoporosis, cataracts and cardiovascular disease, but not neurodegeneration or Alzheimer's disease; those with Down syndrome suffer type 2 diabetes and Alzheimer's disease, but not high blood pressure, osteoporosis or cataracts. In Bloom syndrome, those afflicted most often die of cancer.

Treatment for this rare genetic disorder can be physical therapy, there have been antibiotics found to be affective, and surgery has been found to be another solution.

The most common known cause of the syndrome are mutations in the Proteasome Subunit, Beta Type, 8 (PSMB8) gene that codes for proteasomes that in turn break down other proteins. This occurs specifically when a mutation causes the homozygous recessive form to emerge. The mutated gene results in proteins not being degraded and oxidative proteins building up in cellular tissues, eventually leading to apoptosis, especially in muscle and fat cells.

A study conducted by Brehm et al. in November 2015 discovered additional mutations that can cause CANDLE syndrome, including PSMA3 (encodes α7), PSMB4 (encodes β7), PSMB9 (encodes β1i), and the proteasome maturation protein (POMP), with 8 mutations in total between them. An additional unknown mutation type in the original PSMB8 gene was also noted.

For a prognosis, treatment, and any other information, please consult your doctor.

Macrocephaly may be pathological, but many people with abnormally large heads or large skulls are healthy. Pathologic macrocephaly may be due to megalencephaly (enlarged brain), hydrocephalus (water on the brain), cranial hyperostosis (bone overgrowth), and other conditions. Pathologic macrocephaly is called "syndromic" when it is associated with any other noteworthy condition, and "nonsyndromic" otherwise. Pathologic macrocephaly can be caused by congenital anatomic abnormalities, genetic conditions, or by environmental events.

Many genetic conditions are associated with macrocephaly, including familial macrocephaly related to the holgate gene, autism, "PTEN" mutations such as Cowden disease, neurofibromatosis type 1, and tuberous sclerosis; overgrowth syndromes such as Sotos syndrome (cerebral gigantism), Weaver syndrome, Simpson-Golabi-Behmel syndrome (bulldog syndrome), and macrocephaly-capillary malformation (M-CMTC) syndrome; neurocardiofacial-cutaneous syndromes such as Noonan syndrome, Costello syndrome, Gorlin Syndrome, (also known as Basal Cell Nevus Syndrome) and cardiofaciocutaneous syndrome; Fragile X syndrome; leukodystrophies (brain white matter degeneration) such as Alexander disease, Canavan disease, and megalencephalic leukoencephalopathy with subcortical cysts; and glutaric aciduria type 1 and D-2-hydroxyglutaric aciduria.

At one end of the genetic spectrum, duplications of chromosomes have been found to be related to autism and macrocephaly; at the other end, deletions of chromosomes have been found to be related to schizophrenia and microcephaly.

Environmental events associated with macrocephaly include infection, neonatal intraventricular hemorrhage (bleeding within the infant brain), subdural hematoma (bleeding beneath the outer lining of the brain), subdural effusion (collection of fluid beneath the outer lining of the brain), and arachnoid cysts (cysts on the brain surface).

Drug-related gingival hyperplasia is a cutaneous condition characterized by enlargement of the gums noted during the first year of drug treatment. There are three drug classes that are associated with this condition namely, anticonvulsants (such as phenyotoin and phenobartibal), calcium channel blocker (such as amlopidine, nifedipine and verapamil) and ciclosporin, an immunosuppressant Although the mechanism of drug related gingival hyperplasia is not well understood, some risk factors for the condition include the duration of drug use and poor oral hygiene. In most cases, alternative drugs are given, in order to avoid this side effect.

Angiolymphoid hyperplasia with eosinophilia (also known as: "Epithelioid hemangioma," "Histiocytoid hemangioma," "Inflammatory angiomatous nodule," "Intravenous atypical vascular proliferation," "Papular angioplasia," "Inflammatory arteriovenous hemangioma," and "Pseudopyogenic granuloma") usually presents with pink to red-brown, dome-shaped, dermal papules or nodules of the head or neck, especially about the ears and on the scalp.

It, or a similar lesion, has been suggested as a feature of IgG4-related skin disease, which is the name used for skin manifestations of IgG4-related disease.

Macrocephaly is a condition in which the head is abnormally large; this includes the scalp, the cranial bone, and the contents of the cranium.

Zaspopathy, also called ZASP-related myofibril myopathy, is a novel autosomal dominant form of progressive muscular dystrophy, first described in 2005.

The disease encompasses multiple forms of both distal and proximal myopathies, and is caused by mutations in the gene referred to as ZASP.

Adipomastia, or lipomastia, also known colloquially as fatty breasts, is a condition defined as an excess of skin and adipose tissue in the breasts without true breast glandular tissue. It is commonly present in men with obesity, and is particularly apparent in men who have undergone massive weight loss. A related/synonymous term is pseudogynecomastia. The condition is different and should be distinguished from gynecomastia ("women's breasts"), which involves true glandular breast development in a male. The two conditions can usually be distinguished easily by palpation to check for the presence of glandular tissue. Another difference between the conditions is that breast pain/tenderness does not occur in pseudogynecomastia. Sometimes, gynecomastia and pseudogynecomastia are present together; this is related to the fact that fat tissue expresses aromatase, the enzyme responsible for the synthesis of estrogen, and estrogen is produced to a disproportionate extent in men with excessive amounts of fat, resulting in simultaneous glandular enlargement.

Symmetrical drug-related intertriginous and flexural exanthema (SDRIFE), more popularly known as Baboon syndrome because of its resemblance to the distinctive red buttocks displayed by female baboons, is a systemic contact dermatitis characterized by well-demarcated patches of erythema distributed symmetrically on the buttocks.

The cause of the syndrome may be drug-related, i.e. induced by systemic administration of hydroxyzine penicillin, iodinated radio contrast media and others.

Aging (senescence) increases vulnerability to age-associated diseases, whereas genetics determines vulnerability or resistance between species and individuals within species. Some age-related changes (like graying hair) are said to be unrelated to an increase in mortality. But some biogerontologists believe that the same underlying changes that cause graying hair also increase mortality in other organ systems and that understanding the incidence of age-associated disease will advance knowledge of the biology of senescence just as knowledge of childhood diseases advanced knowledge of human development.

Strategies for Engineered Negligible Senescence (SENS) is a research strategy which aims to repair a few "root causes" for age-related illness and degeneration, as well as develop medical procedures to periodically repair all such damage in the human body, thereby maintaining a youth-like state indefinitely. So far, the SENS programme has identified seven types of aging-related damage, and feasible solutions have been outlined for each. However, critics argue that the SENS agenda is optimistic at best, and that the aging process is too complex and little-understood for SENS to be scientific or implementable in the foreseeable future.

Pregnancy and lactation-associated osteoporosis (PLO; also known as pregnancy-associated osteoporosis PAO and pregnancy-related osteoporosis) is a rare condition that occurs during pregnancy and lactation, resulting in bone loss. This, in turn, leads to fragility fractures, generally in the spine or hip. The primary symptoms are severe back pain and physical disability.

The symptoms usually appear in the first pregnancy with the most common complaint being severe back pain The exact causes of the disease are not yet known, the symptoms often occur in the last trimester of pregnancy or shortly after birth. Related symptoms puerperium and during breastfeeding have also been reported.

Myostatin-related muscle hypertrophy (or myotonic hypertrophy) is a rare genetic condition characterized by reduced body fat and increased skeletal muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. Myostatin-related muscle hypertrophy is not known to cause medical problems, and affected individuals are intellectually normal. The prevalence of this condition is unknown.

Mutations in the "MSTN" gene cause myostatin-related muscle hypertrophy. The "MSTN" gene provides instructions for making a protein called myostatin, which is active in muscles used for movement (skeletal muscles) both before and after birth. This protein normally restrains muscle growth, ensuring that muscles do not grow too large. Mutations that reduce the production of functional myostatin lead to an overgrowth of muscle tissue. Myostatin-related muscle hypertrophy has a pattern of inheritance known as incomplete autosomal dominance. People with a mutation in both copies of the gene in each cell (homozygotes) have significantly increased muscle mass and strength. People with a mutation in one copy of the "MSTN" gene in each cell (heterozygotes) also have increased muscle bulk, but to a lesser degree.

Researchers at Guangzhou Institutes of Biomedicine and Health in China have edited the genome of beagles to create double the amount of muscle.

Baboon syndrome affects both sexes equally, and can occur at any age, but seems to be more common in childhood than in adulthood.

Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely varying, phenotypically-observed disorders. Such diseases are becoming known as ciliopathies. Known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel–Gruber syndrome and some forms of retinal degeneration.

Some specific reactive lymphadenopathies with a predominantly follicular pattern:

- Rheumatoid arthritis

- Sjogren syndrome

- IgG4-related disease (IgG4-related lymphadenopathy)

- Kimura disease

- Toxoplasmosis

- Syphilis

- Castleman disease

- HIV-associated lymphadenopathy

- Progressive transformation of germinal centers (PTGC)

Those affected were born prematurely, and suffered from feeding difficulties and developmental delays. They presented with progressive kidney disease and primary pulmonary hypertension, and ultimately died.

As recognition of IgG4-RD is relatively recent, there are limited studies on its epidemiology. It is therefore difficult to make an accurate estimation of prevalence. Furthermore, age of onset is almost impossible to estimate; age at diagnosis is frequently misused as the age of onset.

A 2011 study estimated the incidence of IgG4-RD in Japan at 2.8–10.8/million population, with a median age of onset of 58 years.