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Supernumerary body parts are most commonly a congenital disorder involving the growth of an additional part of the body and a deviation from the body plan. Body parts may be easily visible or hidden away, such as internal organs.
Many additional body parts form by the same process as conjoined twins: the zygote begins to split but fails to completely separate. This condition may also be a symptom of repeated occurrences of continuous inbreeding in a genetic line.
Specific types of additional body parts include:
- Accessory breast – one or more additional breasts
- Accessory spleen – one or more additional spleens
- Cervical rib – an additional rib
- Diphallia - Having two penes/penises.
- Hermaphroditism – having both sexes' sex organs
- Hyperdontia – additional teeth
- Pelvic digit – a bony growth in the soft tissue of the pelvic region
- Polycephaly – an extra head
- Polydactyly – additional fingers or toes
- Polymelia — an extra arm or leg.
- Polyorchidism – having three or more testicles
- Supernumerary bones – these additional bones are fairly common, particularly in the feet, and are frequently mistaken for fractures on x-rays.
- Supernumerary kidney – a third kidney
- Supernumerary nipples – an additional nipple
- Supernumerary phantom limbs – where the brain acts as though a limb were there, but it is not.
- Syndactyly – webbing between the fingers or toes
- Uterus didelphys – two vaginal canals and/or uteri
These lesions usually present in neonates, although they may not come to clinical attention until adulthood (for cosmetic reasons). There is no gender predilection. They are present in approximately 3-6 per 1000 live births.
The condition has an incidence of 1 in every 500 live births. Postaxial hand polydactyly is a common isolated disorder in African black children, and autosomal dominant transmission is suspected. Postaxial polydactyly is more frequent in native Africans living in the Eastern and Central than the Caucasians and Mongoloids and is more frequent in male children. In contrast, postaxial polydactyly seen in white children is usually syndromic and associated with an autosomal recessive transmission. One study by Finley et al. combined data from Jefferson County, Alabama, United States and Uppsala County, Sweden. This study showed incidence of all types of polydactyly to be 2.3 per 1000 in Caucasian males, 0.6 per 1000 in Caucasian females, 13.5 per 1000 in African males, and 11.1 per 1000 in African females.
Type VII of radial polydactyly is associated with several syndromes:
Holt–Oram syndrome, Fanconi anemia (aplastic anemia by the age of 6), Townes–Brocks syndrome, and Greig cephalopolysyndactyly (also known to occur with ulnar polydactyly).
The cause of talon cusp is unknown. The anomaly can occur due to genetic and environmental factors but the onset can be spontaneous. Prevention is difficult because the occurrence happens during the development of teeth.
Talon cusp affects men and women equally, however the majority of reported cases are of the male gender. Individuals of Asian, Arabic, Native American and Inuit descent are affected more commonly. Talon cusp is also highly observed in patients with orofacial digital II syndrome and Rubinstein Taybi syndrome. Other anomalies that occur with talon cusp can include peg laterals, supernumerary teeth, dens envaginatus, agenesis and impaction. A person belonging to one of these particular demographics or one who has any of these deformities or syndromes may have a higher risk of having a talon cusp.
Future studies will look further into the relationship of talon cusp and Rubinstein-Taybi syndrome and other oral-facial-digital syndromes. A former study showed a direct correlation in which 45 affected patients with Rubinstein-Taybi syndrome, 92% of these patients had talon cusp. Other researchers are attempting to trace talon cusp to ancestors and comparing dentition to modern humans. Another study done in 2007 examined the dentition of 301 Native American Indian skeletons for the presence or absence of talon cusp. The results showed five skeletons (2 percent) in the population had the trait.
In 2011, only 21 cases of talon cusp have been reported and are in literature. It appears that as of 2014 and 2015, additional research continues in hopes of finding the cause and mechanism of talon cusp. With the majority of cases of talon cusp being unreported, it remains difficult to conduct tests, come up with conclusions, conduct surgery and perform research with small numbers.
An accessory auricle is considered a developmental anomaly resulting from the persistence of a structure which variably recapitulates the normal external ear.
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.
Synpolydactyly is a joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits). This is often a result of a mutation in the HOX D13 gene.
Types include:
Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means "shortness of the fingers and toes" (digits). The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, usually dominant trait. It most often occurs as an isolated dysmelia, but can also occur with other anomalies as part of many congenital syndromes.
Nomograms for normal values of finger length as a ratio to other body measurements have been published. In clinical genetics the most commonly used index of digit length is the dimensionless ratio of the length of the 3rd (middle) finger to the hand length. Both are expressed in the same units (centimeters, for example) and are measured in an open hand from the fingertip to the principal creases where the finger joins the palm and where the palm joins the wrist.
Females are affected more than males, and the condition occurs in permanent (adult) teeth more than deciduous (baby teeth or milk teeth).
The cause of isolated missing teeth remains unclear, but the condition is believed to be associated with genetic or environmental factors during dental development. Missing teeth have been reported in association with increased maternal age, low birth weight, multiple births and rubella virus infection during embryonic life.
There is a possible correlation between tooth agenesis and innervation. A relationship was also postulated between abnormalities of the brainstem and the presence of agenesis.
Hypodontia is often familial, and can also be associated with genetic disorders such as ectodermal dysplasia or Down syndrome. Hypodontia can also be seen in people with cleft lip and palate.
Among the possible causes are mentioned genetic, hormonal, environmental and infectious.
Cause due to hormonal defects: idiopathic hypoparathyroidism and pseudohypoparathyroidism. Exists the possibility that this defect depends on a moniliasis (candidiasis, "candida endocrinopathy syndrome").
Environmental causes involving exposure to PCBs (ex.dioxin), radiation, anticancer chemotherapeutic agents, allergy and toxic epidermal necrolysis after drug.
Infectious causes of hypodontia: rubella, candida.
The Journal of the American Dental Association published preliminary data suggesting a statistical association between hypodontia of the permanent teeth and epithelial ovarian cancer (EOC). The study shows that women with EOC are 8.1 times more likely to have hypodontia than are women without EOC. The suggestion therefore is that hypodontia can serve as a "marker" for potential risk of EOC in women.
Also the increased frequency of hypodontia in twins and low birth weight in twins with hypodontia suggests that environmental factors during perinatal are responsible hypodontia.
Most cases of polyorchidism are asymptomatic, and are discovered incidentally, in the course of treating another condition. In the majority of cases, the supernumerary testicle is found in the scrotum.
However, polyorchidism can occur in conjunction with cryptorchidism, where the supernumerary testicle is undescended or found elsewhere in the body. These cases are associated with a significant increase in the incidence of testicular cancer: 0.004% for the general population vs 5.7% for a supernumerary testicle not found in the scrotum.
Polyorchidism can also occur in conjunction with infertility, inguinal hernia, testicular torsion, epididymitis, hydrocele testis and varicocele. However, it is not clear whether polyorchidism causes or aggravates these conditions, or whether the existence of these conditions leads sufferers to seek medical attention and thus become diagnosed with a previously undetected supernumerary testicle.
The cause of germination is still unknown. However, there are a few possible factors contributing to germination:
- Vitamin deficiency
- Hormonal irregularities
- Infection or inflammation of areas near to the developing tooth bud
- Drug induced
- Genetic predisposition
- Radiotherapy that caused damage to the developing tooth germ
A supernumerary nipple (also known as a third nipple, triple nipple, accessory nipple, polythelia or the related condition: polymastia) is an additional nipple occurring in mammals, including humans. Often mistaken for moles, supernumerary nipples are diagnosed in humans at a rate of approximately 1 in 18 people.
The nipples appear along the two vertical "milk lines," which start in the armpit on each side, run down through the typical nipples and end at the groin. They are classified into eight levels of completeness from a simple patch of hair to a milk-bearing breast in miniature.
"Polythelia" refers to the presence of an additional nipple alone while "polymastia" denotes the much rarer presence of additional mammary glands.
Although usually presenting on the milk line, pseudomamma can appear as far away as the foot.
A possible relationship with mitral valve prolapse has been proposed.
There are many potential factors involved.
- Congenital hypopituitarism
- Ectodermal dysplasia
- Down syndrome
- Ionizing radiation to the jaws during tooth development (odontogenesis)
- Chemotherapy during tooth development
- Marshall syndrome
- Rieger syndrome
- Focal dermal hypoplasia
- Silver-Russell syndrome
- Williams syndrome
- Gorlin-Chaudhry-Moss syndrome
- Coffin–Siris syndrome
- Salamon syndrome
- Cleft lip and palate
Others include trichorhinopharyngeal, odontotrichomelic, neuroectodermal and dermo-odontodysplasia syndromes.
In some cases, the accessory breast may not be visible at the surface. In these cases, it may be possible to distinguish their appearance from normal breast tissue with MRI. In other cases, accessory breasts have been known to lactate, as illustrated in a woodcut showing a child nursing at ectopic breast tissue on the lateral thigh.
There is some evidence that the condition may be more common in Native American populations.
Genetic causes also involve the genes MSX1 and PAX9.
Genetic associations for selective tooth agenesis ("STHAG") include:
Several studies have reported that life expectancy appears to be normal for people with CCD.
Because polyorchidism is very uncommon, there is no standard treatment for the condition. Prior to advances in ultrasound technology, it was common practice to remove the supernumerary testicle. Several cases have been described where routine follow-up examinations conducted over a period of years showed that the supernumerary testicle was stable.
A meta-analysis in 2009 suggested removing non-scrotal supernumerary testicles because of the increased risk of cancer, and regular follow-up in the remaining cases to ensure that the supernumerary testicle remains stable.
Accessory breasts, also known as polymastia, supernumerary breasts, or mammae erraticae, is the condition of having an additional breast. Extra breasts may appear with or without nipples or areolae. It is a condition and a form of atavism which is most prevalent in male humans, and often goes untreated as it is mostly harmless. In recent years, many affected women have had a plastic surgery operation to remove the additional breasts, for purely aesthetic reasons.
A related condition, in which extra nipples form, is called "supernumerary nipple" or "polythelia".
Before root canal treatment or extraction are carried out, the clinician should have thorough knowledge about the root canal morphology to avoid complications.
It is usually autosomal dominant, but in some cases the cause is not known. It occurs due to haploinsufficiency caused by mutations in the CBFA1 gene (also called Runx2), located on the short arm of chromosome 6, which encodes transcription factor required for osteoblast differentiation. It results in delayed ossification of midline structures of the body, particularly membranous bone.
A new article reports that the CCD cause is thought to be due to a CBFA1 (core binding factor activity 1) gene defect on the short arm of chromosome 6p21 . CBFA1 is vital for differentiation of stem cells into osteoblasts, so any defect in this gene will cause defects in membranous and endochondral bone formation.
In teratology, proboscis is a blind-ended, tubelike structure, commonly located in the midface.
Proboscis formation are classified in four general types: holoprosencephalic proboscis, lateral nasal proboscis, supernumerary proboscis, and disruptive proboscis.
- Holoprosencephalic proboscis is found in holoprosencephaly. In cyclopia or ethmocephaly, proboscis is an abnormally formed nose. In cyclopia, a single median eye is associated with arrhinia (absence of the nose) and usually with proboscis formation above the eye. In ethmocephaly, two separate hypoteloric eyes are associated with arrhinia and supraocular proboscis formation. In cebocephaly, no proboscis formation occurs, but a single-nostril nose is present.
- Lateral nasal proboscis (proboscis lateralis) is a tubular proboscis-like structure and represents incomplete formation of one side of the nose; it is found instead of a nostril. The olfactory bulb is usually rudimentary on the involved side. The lacrimal duct (tear duct), nasal bone, nasal cavity, vomer, maxillary sinus, cribriform plate, and ethmoid cells are often missing on the involved side. Ocular hypertelorism may be present. The proboscis lateralis is a rare nasal anomaly.
- Supernumerary proboscis (Accessory proboscis) is found when both nostrils are formed and a proboscis occurs additionally. Accessory proboscis arise from a supernumerary olfactory placode.
- Disruptive proboscis occur if an early embryonic hamartoneoplastic lesion arises in the primitive prosencephalon.