The treatment/management for Cantú syndrome is based on surgical option for patent ductus arteriosus in early life, and management of scoliosis via bracing. Furthermore, regular echocardiograms are needed for the individual who has exhibited this condition.

A recommend surveillance program for Multiple Endocrine Neoplasia Type 1 has been suggested by the International Guidelines for Diagnosis and Therapy of MEN syndromes group.

Cantú syndrome (hypertrychotic osteochondrodysplasia) is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly. Less than 50 cases have been described in the literature; they are associated with a mutation in the "ABCC9"-gene that codes for the ABCC9-protein.

Full trisomy 9 is a lethal chromosomal disorder caused by having three copies (trisomy) of chromosome number 9. It can be a viable condition if trisomy affects only part of the cells of the body (mosaicism) or in cases of partial trisomy (trisomy 9p) in which cells have a normal set of two entire chromosomes 9 plus part of a third copy, usually of the short arm of the chromosome (arm p).

The diagnosis of PPS has been made in several ethnic groups, including Caucasian, Japanese, and sub-Saharan African. Males and females are equally likely to suffer from the syndrome. Since the disorder is very rare, its incidence rate is difficult to estimate, but is less than 1 in 10,000.

Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) multisystem disease first described in 1975. It is inherited in an autosomal recessive fashion, and a number of genes appear to be responsible. Three genes responsible have been identified: intraflagellar transport (IFT)122 (WDR10), IFT43 — a subunit of the IFT complex A machinery of primary cilia, and WDR35 (IFT121: TULP4)

It is also known as Sensenbrenner–Dorst–Owens syndrome, Levin Syndrome I and cranioectodermal dysplasia (CED)

Medical management of children with Trisomy 13 is planned on a case-by-case basis and depends on the individual circumstances of the patient. Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects. Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential. Surviving children are described as happy and parents report that they enrich their lives. The cited study grouped Edwards syndrome, which is sometimes survivable beyond toddlerhood, along with Patau, hence the median age of 4 at the time of data collection.

Peters plus syndrome (Krause–van Schooneveld–Kivlin syndrome) is a hereditary syndrome that mainly affects the eyes, growth and development of the individual. It is also known as Krause–Kivlin syndrome.

Features of this syndrome include Peters anomaly, leukoma (corneal opacity), central defect of Descemet's membrane, and shallow anterior chamber with synechiae between the iris and cornea. It is associated with short limb dwarfism and delayed mental development.

Krause–van Schooneveld–Kivlin syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH), which means that the syndrome, or a subtype, affects fewer than 200,000 people in the United States.

It is associated with the enzyme "B3GALTL".

It was characterized in 1984 by van Schooneveld.

Trisomy 9 can be detected prenatally with chorionic villus sampling and cordocentesis, and can be suggested by obstetric ultrasonography.

Because trisomy 9 may appear with mosaicism, it is suggested that doctors take samples from multiple tissues when karyotyping for diagnosis.

Van der Woude syndrome (VDWS) and popliteal pterygium syndrome (PPS) are allelic variants of the same condition; that is, they are caused by different mutations of the same gene. PPS includes all the features of VDWS, plus popliteal pterygium, syngnathia, distinct toe/nail abnormality, syndactyly, and genito-urinary malformations.

Early diagnosis allows better planning of therapy in young patients with NF II. In many cases, the hearing loss is present for 10 years before the correct diagnosis is established. Early in the condition, surgery for an acoustic neurinoma can protect facial nerve function in many patients. In selected cases of patients with very small tumors and good bilateral hearing, surgery may offer the possibility of long-term hearing preservation.

Patients with the Wishard phenotype suffer multiple recurrences of the tumour after surgical treatment. In the case of facial nerve palsy, the muscles of the eyelids can lose their mobility, leading to conjunctivitis and corneal injury. "Lidloading" (implantation of small magnets, gold weights, or springs in the lid) can help prevent these complications. Other means of preserving corneal health include tarsorrhaphy, where the eyelids are partially sewn together to narrow the opening of the eye, or the use of punctal plugs, which block the duct that drains tears from the conjunctival sac. All these techniques conserve moisture from the lacrymal glands, which lubricates the cornea and prevents injury. Most patients with NF II develop cataracts, which often require replacement of the lens. Children of affected parents should have a specialist examination every year to detect developing tumors. Learning of sign language is one means of preparation for those that will most probably suffer complete hearing loss.

Although not officially categorized as multiple endocrine neoplasia syndromes, Von Hippel-Lindau disease and Carney complex are two other autosomal dominant endocrine tumor syndromes with features that overlap the clinical features of the MEN syndromes. Although not transmitted in the germline, McCune-Albright syndrome is a genetic disorder characterized by endocrine neoplastic features involving endocrine glands that overlap with those involved in MEN1 or MEN2.

More than 80% of children with Patau syndrome die within the first year of life. Children with the mosaic variation are usually affected to a lesser extent. In a retrospective Canadian study of 174 children with trisomy 13, median survival time was 12.5 days. One and ten year survival was 19.8% and 12.9% respectively.

Management of rhizomelic chondrodysplasia punctate can include physical therapy, additionally orthopedic procedures improved function sometimes in affected people. However the prognosis is poor in this condition.

A 2009 clinical trial at Massachusetts General Hospital used the cancer drug Bevacizumab (commercial name: Avastin) to treat 10 patients with neurofibromatosis type II. The result was published in "The New England Journal of Medicine". Of the ten patients treated with bevacizumab, tumours shrank in 9 of them, with the median best response rate of 26%. Hearing improved in some of the patients, but improvements were not strongly correlated with tumour shrinkage. Bevacizumab works by cutting the blood supply to the tumours and thus depriving them of their growth vector. Side effects during the study included alanine aminotransferase, proteinuria, and hypertension (elevated blood pressure) among others. A separate trial, published in "The Neuro-oncology Journal", show 40% tumour reduction in the two patients with NF2, along with significant hearing improvement.

Overall the researchers believed that bevacizumab showed clinically significant effects on NF-2 patients. However, more research is needed before the full effects of bevacizumab can be established in NF-2 patients.

Ross' syndrome consists of Adie's syndrome (myotonic pupils and absent deep tendon reflexes) plus segmental anhidrosis (typically associated with compensatory hyperhidrosis).

It was characterized in 1958 by A.T. Ross.

By 1992, eighteen cases had been documented.

The standard treatment of COC is enucleation and curettage (E&C). Recurrence following E&C is rare.

As reported by Dispenzieri "et al." Mayo Clinic treatment regimens are tailored to treat the clinical manifestations and prognosis for the rate of progression of the POEMS syndrome in each patient. In rare cases, patients may have minimal or no symptoms at presentation or after successful treatment of their disorder. These patients may be monitored every 2–3 months for symptoms and disease progression. Otherwise, treatment is divided based on the local versus systemic spread of its clonal plasma cells. Patients with one or two plasmacytoma bone lesions and no clonal plasma cells in their bone marrow biopsy specimens are treated by surgical removal or radiotherapy of their tumors. These treatments can relieve many of the syndromes clinical manifestations including neuropathies, have a 10-year overall survival of 70% and a 6-year progression-free survival of 62%. Patients with >2 plasmacytoma bone lesions and/or increases in bone marrow clonal plasma cells are treated with a low-dose or high-dose chemotherapy regimen, i.e. a corticosteroid such as dexamethasone plus an alkylating agents such as melphalan. Dosage regimens are selected on the basis of patient tolerance. Hematological response rates to the dexamethasone/melphalan regimens have been reported to be in the 80% range with neurological response rates approaching 100%. Patients successfully treated with the high-dose dexamethasone/melphalan regimen have been further treated with autologous stem cell transplantation. In 59 patients treated with the chemotherapy/transplantation regimen, the Mayo Clinic reported progression-free survival rates of 98%, 94%, and 75% at 1, 2, and 5 years, respectively.

Other treatment regiments are being studied. Immunomodulatory imide drugs such as thalidomide and lenalidomide have been used in combination with dexamethasone to treat POEMS syndrome patients. While the mechanism of action fo these immunomodulators are not clear, they do inhibit the production of cytokines suspected of contributing to POEMS syndrome such as VEGF, TNFα, and IL-6 and stimulate T cells and NK cells to increase their production of interferon gamma and interleukin 2 (see immunomodulatory imide drug's mechanism of action). A double blind study of 25 POEMS syndrome patients found significantly better results (VEGF reduction, neuromuscular function improvement, quality of life improvement) in patients treated with thalidomide plus dexamethasone compared to patients treated with a thalidomide placebo plus dexamethasone.

Since VEGF plays a central role in the symptoms of POEMS syndrome, some have tried bevacizumab, a monoclonal antibody directed against VEGF. While some reports were positive, others have reported capillary leak syndrome suspected to be the result of overly rapid lowering of VEGF levels. It therefore remains doubtful as to whether this will become part of standard treatment for POEMS syndrome.

Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts. The affected individuals have low levels of plasmalogens.

Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of all, or part of a third copy of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability.

Most cases of Edwards syndrome occur due to problems during the formation of the reproductive cells or during early development. The rate of disease increases with the mother's age. Rarely cases may be inherited from a person's parents. Occasionally not all cells have the extra chromosome, known as mosaic trisomy, and symptoms in these cases may be less severe. Ultrasound can increase suspicion for the condition, which can be confirmed by amniocentesis.

Treatment is supportive. After having one child with the condition, the risk of having a second is typically around one percent. It is the second-most frequent condition due to a third chromosome at birth, after Down syndrome.

Edwards syndrome occurs in around one in 5,000 live births. Some studies suggest that more babies that survive to birth are female. Many of those affected die before birth. Survival beyond a year of life is around 5-25%. It is named after John Hilton Edwards, who first described the syndrome in 1960.

Oxycephaly is a type of cephalic disorder where the top of the skull is pointed or conical due to premature closure of the coronal suture plus any other suture, like the lambdoid, or it may be used to describe the premature fusion of all sutures. It should be differentiated from Crouzon syndrome. Oxycephaly is the most severe of the craniosynostoses.

Edwards syndrome occurs in about one in 5,000 live births, but more conceptions are affected by the syndrome because the majority of those diagnosed with the condition prenatally will not survive to birth. Although women in their 20s and early 30s may conceive babies with Edwards syndrome, the risk of conceiving a child with it increases with a woman's age. The average maternal age for conceiving a child with this disorder is 32½.

It may be associated with:

- 8th cranial nerve lesion

- Optic nerve compression

- Mental retardation

- Syndactyly

In the above brachydactyly syndromes, short digits are the most prominent of the anomalies, but in many other syndromes (Down syndrome, Rubinstein-Taybi syndrome, etc.), brachydactyly is a minor feature compared to the other anomalies or problems comprising the syndrome.

These are pleomorphic and include

- dolichocephaly (with or without sagittal suture synostosis)

- microcephaly

- pre- and postnatal growth retardation

- brachydactyly

- narrow thorax

- rhizomelic dwarfism

- epicanthal folds

- hypodontia and/or microdontia

- sparse, slow-growing, hyperpigmented, fine hair

- nail dysplasia

- hypohydrosis

- chronic renal failure

- heart defects

- liver fibrosis

- visual deficits

- photophobia

- hypoplasia of the posterior corpus callosum

- aberrant calcium homeostasis

Electroretinography shows gross abnormalities.

Two fetuses of 19 and 23 weeks gestation have also been reported. They showed acromesomelic shortening, craniofacial characteristics with absence of craniosynostosis, small kidneys with tubular and glomerular microscopic cysts, persistent ductal plate with portal fibrosis in the liver, small adrenals, an enlarged cisterna magna and a posterior fossa cyst.