There is no known specific treatment for this condition. Management is supportive.

Typically, treatment for this condition requires a team of specialists and surgery. Below are the treatments based on the symptom.

There is currently recruitment for a clinical trial at Boston's Children Hospital.

Simple surgical excision is curative. The recommended treatment is that the skin is peeled off the extra-auricular tissue and protruding cartilage remnants are trimmed. Normal appearance is achieved in majority of cases. The reconstruction successful in true cases of accessory auricle, as it also is in individuals with auricular appendages.

Treatment is only necessary if the degree of curvature is sufficient to cause disability or if it causes emotional distress. Splinting does not routinely correct the deformity. Surgical treatments are closing wedge osteotomy, opening wedge osteotomy, and reversed wedge osteotomy. Radiographs of the fingers are useful in planning the surgical procedure. Severe clinodactyly may require soft tissue alterations to the digit such as release of skin, extensor tendon relocation, and collateral ligament advancement.

There is no treatment for the disorder. A number of studies are looking at gene therapy, exon skipping and CRISPR interference to offer hope for the future. Accurate determination through confirmed diagnosis of the genetic mutation that has occurred also offers potential approaches beyond gene replacement for a specific group, namely in the case of diagnosis of a so-called nonsense mutation, a mutation where a stop codon is produced by the changing of a single base in the DNA sequence. This results in premature termination of protein biosynthesis, resulting in a shortened and either functionless or function-impaired protein. In what is sometimes called "read-through therapy", translational skipping of the stop codon, resulting in a functional protein, can be induced by the introduction of specific substances. However, this approach is only conceivable in the case of narrowly circumscribed mutations, which cause differing diseases.

As the causes of local gigantism are varied, treatment depends on the particular condition. Treatment may range from antibiotics and other medical therapy, to surgery in order to correct the anatomical anomaly.

A disease that threatens the eyesight and additionally produces a hair anomaly that is apparent to strangers causes harm beyond the physical. It is therefore not surprising that learning the diagnosis is a shock to the patient. This is as true of the affected children as of their parents and relatives. They are confronted with a statement that there are at present no treatment options. They probably have never felt so alone and abandoned in their lives. The question comes to mind, "Why me/my child?" However, there is always hope and especially for affected children, the first priority should be a happy childhood. Too many examinations and doctor appointments take up time and cannot practically solve the problem of a genetic mutation within a few months. It is therefore advisable for parents to treat their child with empathy, but to raise him or her to be independent and self-confident by the teenage years. Openness about the disease and talking with those affected about their experiences, even though its rarity makes it unlikely that others will be personally affected by it, will together assist in managing life.

Prosthetic replacement of missing teeth is possible using dental implant technology or dentures. This treatment can be successful in giving patients with anodontia a more aesthetically pleasing appearance. The use of an implant prosthesis in the lower jaw could be recommended for younger patients as it is shown to significantly improve the craniofacial growth, social development and self-image. The study associated with this evidence worked with individuals who had ectodermal dysplasia of varying age groups of up to 11, 11 to 18 and more than 18 years. It was noted that the risk of implant failure was significantly higher in patients younger than 18 years, but there is significant reason to use this methodology of treatment in those older. Overall the use of an implant-prosthesis has a considerable functional, aesthetic and psychological advantage when compared to a conventional denture, in the patients.

Trisomy 22 is a chromosomal disorder in which there are three copies of chromosome 22 rather than two. It is a frequent cause of spontaneous abortion during the first trimester of pregnancy. Progression to the second trimester and live birth are rare. This disorder is found in individuals with an extra copy or a variation of chromosome 22 in some or all cells of their body. There are many kinds of disorders associated with Trisomy 22:

Emanuel Syndrome is named after the genetic contributions made by researcher Dr. Beverly Emanuel. This condition is assigned to individuals born with an unbalanced 11/22 translocation. That is, a fragment of chromosome 11 is moved, or translocated, to chromosome 22.

22q11 Deletion Syndrome is a rare condition which occurs in approximately 1 in 4000 births. This condition is identified when a band in the q11.2 section of the arm of chromosome 22 is missing or deleted. This condition has several different names: 22q11.2 Deletion Syndrome, Velocardiofacial syndrome, DiGeorge Syndrome, Conotruncal Anomaly Face syndrome, Opitz G/BBB Syndrome, and Cayler Cardiofacial Syndrome. The effects of this disorder are different in each individual but similarities exist such as heart defects, immune system problems, a distinctive facial appearance, learning challenges, cleft palate, hearing loss, kidney problems, hypocalcemia, and sometimes psychiatric issues.

22q11 microduplication syndrome is the opposite of the 22q11 deletion syndrome: in this condition, a band of q.11.2 section of chromosome 22 is duplicated. Individuals carrying this deficiency are relatively “normal” as in they don’t possess any major birth defects or major medical illnesses. This microduplication is more common than the deletion; this might be due to the milder phenotype of the individuals.

Phelan-McDermid Syndrome / 22q13 Deletion Syndrome is a condition caused by the deletion of the tip of the q arm on chromosome 22. Most individuals with this disorder experience cognitive delays; low muscle tone; and sleeping, eating, and behavioural issues.

Chromosome Ring 22 is a rare disorder caused by the break and re-join of both ends of chromosome 22, forming a ring. The effects on the individual with this disorder are dependent on the amount of genetic information lost during the break/re-join. Major characteristics for this disorder are intellectual disability, muscle weakness and lack of coordination.

Cat Eye Syndrome / Schmid Fraccaro Syndrome is a condition caused by a partial trisomy or tetrasomy in chromosome 22. A small extra chromosome is found, made up of the top half of chromosome 22 and a portion of the q arm at the q11.2 break. This chromosome can be found three or four times. This syndrome is referred as “Cat Eye” due to the eye appearance of reported affected individuals who have coloboma of the iris; however, this feature is only seen in about half of the cases.

Mosaic trisomy 22 is a disorder in which an extra chromosome 22 is found only in some cells of the body. The severity of each case is determined by the number of cells with this extra copy. Some characteristics of individuals with this condition are cardiac abnormalities, growth retardation, mental delay, etc.

Complete Trisomy 22 is in contrast with Mosaic trisomy 22; this disorder is characterized by an extra copy of chromosome 22 which is found in each cell of the body of the affected individual. These cases are very rare, and most of the affected individuals die before birth or shortly after.

Colobomas of the iris may be treated in a number of ways. A simple cosmetic solution is a specialized cosmetic contact lens with an artificial pupil aperture. Surgical repair of the iris defect is also possible. Surgeons can close the defect by stitching in some cases. More recently artificial iris prosthetic devices such as the Human Optics artificial iris have been used successfully by specialist surgeons. This device cannot be used if the natural lens is in place and is not suitable for children. Suture repair is a better option where the lens is still present.

Vision can be improved with glasses, contact lenses or even laser eye surgery but may be limited if the retina is affected or there is amblyopia.

It is named after the German ophthalmologist Theodor Axenfeld who studied anterior segment disorders, especially those such as Rieger Syndrome and the Axenfeld Anomaly.

Axenfeld-Rieger syndrome is characterized by abnormalities of the eyes, teeth, and facial structure. Rieger Syndrome, by medical definition, is determined by the presence of malformed teeth, underdeveloped anterior segment of the eyes, and cardiac problems associated with the Axenfeld anomaly. The term "Rieger syndrome" is sometimes used to indicate an association with glaucoma. Glaucoma occurs in up to 50% of patients with Rieger Syndrome. Glaucoma develops during adolescence or late-childhood, but often occurs in infancy. In addition, a prominent Schwalbe's line, an opaque ring around the cornea known as posterior embryotoxon, may arise with hypoplasia of the iris. Below average height and stature, stunted development of the mid-facial features and mental deficiencies may also be observed in patients.

SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems.

It was characterized in 1975.

Ethmocephaly is a type of cephalic disorder caused by holoprosencephaly. Ethmocephaly is the least common facial anomaly. It consists of a proboscis separating narrow-set eyes with an absent nose and microphthalmia (abnormal smallness of one or both eyes). Cebocephaly, another facial anomaly, is characterized by a small, flattened nose with a single nostril situated below incomplete or underdeveloped closely set eyes.

The least severe in the spectrum of facial anomalies is the median cleft lip, also called premaxillary agenesis.

Although the causes of most cases of holoprosencephaly remain unknown, some may be due to dominant or chromosome causes. Such chromosomal anomalies as trisomy 13 and trisomy 18 have been found in association with holoprosencephaly, or other neural tube defects. Genetic counseling and genetic testing, such as amniocentesis, is usually offered during a pregnancy if holoprosencephaly is detected. The recurrence risk depends on the underlying cause. If no cause is identified and the fetal chromosomes are normal, the chance to have another pregnancy affected with holoprosencephaly is about 6%.

There is no treatment for holoprosencephaly and the prognosis for individuals with the disorder is poor. Most of those who survive show no significant developmental gains. For children who survive, treatment is symptomatic. It is possible that improved management of diabetic pregnancies may help prevent holoprosencephaly, however there is no means of primary prevention.

A septum can be resected with surgery. Hysteroscopic removal of a uterine septum is generally the preferred method, as the intervention is relatively minor and safe in experienced hands. A follow-up imaging study should demonstrate the removal of the septum.

Tactile cold scissor metroplasty was described as a back technique for hysteroscopic challenges that interfere with proper visualization or uterine distention

It is not considered necessary to remove a septum that has not caused problems, especially in women who are not considering pregnancy. There is controversy over whether a septum should be removed prophylactically to reduce the risk of pregnancy loss prior to a pregnancy or infertility treatment.

Anomalies resembling Pelger–Huët anomaly that are acquired rather than congenital have been described as pseudo Pelger–Huët anomaly. These can develop in the course of acute myelogenous leukemia or chronic myelogenous leukemia and in myelodysplastic syndrome. It has also been described in Filovirus disease.

In patients with these conditions, the pseudo–Pelger–Huët cells tend to appear late in the disease and often appear after considerable chemotherapy has been administered. The morphologic changes have also been described in myxedema associated with panhypopituitarism, vitamin B12 and folate deficiency, multiple myeloma, enteroviral infections, malaria, muscular dystrophy, leukemoid reaction secondary to metastases to the bone marrow, and drug sensitivity, sulfa and valproate toxicities are examples. In some of these conditions, especially the drug-induced cases, identifying the change as Pelger–Huët anomaly is important because it obviates the need for further unnecessary testing for cancer.

Peripheral blood smear shows a predominance of neutrophils with bilobed nuclei which are composed of two nuclear masses connected with a thin filament of chromatin. It resembles the pince-nez glasses, so it is often referred to as pince-nez appearance. Usually the congenital form is not associated with thrombocytopenia and leukopenia, so if these features are present more detailed search for myelodysplasia is warranted, as pseudo-Pelger–Huët anomaly can be an early feature of myelodysplasia.

Treatment of all categories of congenital clasped thumbs should start with either serial plaster casting or wearing a static or dynamic splint for a period of six months, while massaging the hand. Extension by splinting shows reduction of the flexion contracture. To gain optimal results, it is important to start this treatment before the age of six months. The result of this therapy is better in less severe deformities. In most uncomplicated cases, a satisfactory result can be gained when splint therapy starts before the age of six months. Splinting should be tried for at least three months and possibly for as long as six months or longer. If the result of splint therapy stagnates, surgery treatment is indicated.

Treatment of congenital clasped thumb includes two types of therapy: conservative and surgical.

Facial femoral syndrome is a rare congenital disorder. It is also known as femoral dysgenesis, bilateral femoral dysgenesis, bilateral-Robin anomaly and femoral hypoplasia-unusual facies syndrome. The main features of this disorder are underdeveloped thigh bones (femurs) and unusual facial features.

Wildervanck syndrome or cervico-oculo-acoustic syndrome comprises a triad of:

- Duane syndrome

- Klippel-Feil anomaly (fused cervical vertebrae)

- congenital hearing loss

Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail to develop.

Unilateral and Bilateral Renal Agenesis in humans, mice and zebra fish has been linked to mutations in the gene GREB1L. It has also been associated with mutations in the genes "RET" or "UPK3A". in humans (see Rosenblum et al 2017 for review) and mice respectively.

Surgery

Surgical intervention is warranted in patients who present with new onset neurological signs and symptoms or have a history of progressive neurological manifestations which can be related to this abnormality. The surgical procedure required for the effective treatment of diastematomyelia includes decompression (surgery) of neural elements and removal of bony spur. This may be accomplished with or without resection and repair of the duplicated dural sacs. Resection and repair of the duplicated dural sacs is preferred since the dural abnormality may partly contribute to the "tethering" process responsible for the symptoms of this condition.

Post-myelographic CT scanning provides individualized detailed maps that enable surgical treatment of cervical diastematomyelia, first performed in 1983.

Observation

Asymptomatic patients do not require surgical treatment. These patients should have regular neurological examinations since it is known that the condition can deteriorate. If any progression is identified, then a resection should be performed.

Microspherophakia is a rare congenital autosomal recessive condition where the lens of the eye is smaller than normal and spherically shaped. This condition may be associated with a number of disorders including Peter's anomaly, Marfan syndrome, and Weill–Marchesani syndrome. The spherical shape is caused by an underdeveloped zonule of Zinn, which doesn't exert enough force on the lens to make it form the usual oval shape. It is a result of a homozygous mutation to the LTBP2 gene.

Shprintzen–Goldberg syndrome is a multiple anomaly syndrome that has craniosynostosis, multiple abdominal hernias, cognitive impairment, and other skeletal malformations as key features. Several reports have linked the syndrome to a mutation in the "FBN1" gene, but these cases do not resemble those initially described in the medical literature in 1982 by Shprintzen and Goldberg, and Greally et al. in 1998 failed to find a causal link to FBN1. At this time, the cause of Shprintzen–Goldberg syndrome remains uncertain. The syndrome is rare with fewer than 50 cases described in the medical literature to date.

SHORT is an acronym for short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, rieger anomaly and teething delay.

Other characteristics common in SHORT syndrome are a triangular face, small chin with a dimple, a loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech.