Arrhinia

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Arrhinia
Other namesNasal agenesis
Arhinia.jpg
Neonate with partial arrhinia.
Pronunciation
Specialty Medical genetics   OOjs UI icon edit-ltr-progressive.svg

Arrhinia (alternatively spelled "arhinia") is the congenital partial or complete absence of the nose at birth. It is an extremely rare condition, with few reported cases in the history of modern medicine. [1] It is generally classified as a craniofacial abnormality.

Contents

The cause of arrhinia is not known. [1] [2] One study of the literature found that all cases had presented a normal antenatal history. [2]

Conditions

Infant with full arrhinia in cyclopia Roland Cyclopie 2.jpg
Infant with full arrhinia in cyclopia

Arrhinia is associated with the following conditions and syndromes: [3]

History

The term "arrhinia" is derived from the Greek roots "a-" (absence) and "rhinos" (nose); it is alternatively spelled "arhinia."

The phenomenon of congenital arrhinia, which refers to the complete absence of the nose from birth, was initially documented in French literature during the 1800s. Over time, a few additional cases of individuals born with congenital arrhinia, some with accompanying eye defects and others without, were reported in medical literature from the early to mid-1900s. [4]

Dr. James Bosma, a pediatrician and researcher associated with the National Institute of Dental Health, made a significant observation while studying these patients. He noted that individuals with congenital arrhinia often exhibited problems related to genital and reproductive hormones. In his comprehensive report in 1981, Dr. Bosma described two unrelated males initially reported by plastic surgeon Dr. George Gifford et al. in 1972. These patients presented with congenital arrhinia, eye defects, and genital abnormalities, such as a small penis and undescended testes at birth, with no spontaneous sexual maturation. [4]

It is noteworthy that nearly every individual with congenital arrhinia appears to be the first and only one affected within their respective families. Nonetheless, there have been a few reports of multiple cases within the same family, with one of the earliest examples being described by Klaus Ruprecht and Frank Majewski in 1978. They reported on two German sisters who exhibited congenital arrhinia along with eye defects. [4]

Treatment

Treatment focuses on identifying the nature of the anomalies through various imaging methods, including MRI and CAT scan, and surgical correction to the extent possible. [2]

In severe cases, temporary airway devices, such as tracheostomy tubes, may be utilized to facilitate breathing until surgical intervention is deemed appropriate. [5]

Surgical procedures should only be carried out by a team of medical experts, including otolaryngologists, plastic surgeons, and prosthodontists. The arrhinia reconstruction process primarily involves two main parts: the reconstruction of the nasal cavity and the reconstruction of the external nose. [5]

There are two methods for reconstructing the nasal cavity. In the first method, two separate nasal cavities are created using a dental drill, and then silicone tubes are used to keep the newly formed nasal passages open. The second method involves a Le Fort II maxillary osteotomy, which involves making an incision through the maxillozygomatic consoles and towards the medial end of the inferior orbital rim. A horizontal arm connects the two sides, and then the maxilla is carefully fractured, creating a wide median nasal cavity that extends to the upper portion of the rhinopharynx. If the maxillary height is sufficient, the patient may only need a Le-Fort II osteotomy. However, if it is not high enough, the patient will require a Le-Fort II osteotomy first, followed by an extension along the maxillary bone. External distraction devices may also be used to provide additional facial height and sufficient midfacial vertical length for nasal reconstruction. Lengthening the maxilla has two advantages: it provides enough height for nasal cavity reconstruction and achieves suitable aesthetic proportions. [5]

Surgical treatment methods for arrhinia can involve either staged reconstruction or simultaneous reconstruction of the nasal passage and the external nose. Staged reconstruction, where the procedures are performed in separate stages, is more commonly reported than simultaneous reconstruction. [5]

Related Research Articles

<span class="mw-page-title-main">Holoprosencephaly</span> Failure of the forebrain to develop into two hemispheres during embryonic growth

Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon fails to develop into two hemispheres, typically occurring between the 18th and 28th day of gestation. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy. The condition also occurs in other species.

<span class="mw-page-title-main">Cleft lip and cleft palate</span> Birth defect of the palate and upper lip

A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate contains an opening into the nose. The term orofacial cleft refers to either condition or to both occurring together. These disorders can result in feeding problems, speech problems, hearing problems, and frequent ear infections. Less than half the time the condition is associated with other disorders.

<span class="mw-page-title-main">Rhinoplasty</span> Surgical procedure to enhance or reconstruct a human nose

Rhinoplasty, commonly called nose job, medically called nasal reconstruction, is a plastic surgery procedure for altering and reconstructing the nose. There are two types of plastic surgery used – reconstructive surgery that restores the form and functions of the nose and cosmetic surgery that changes the appearance of the nose. Reconstructive surgery seeks to resolve nasal injuries caused by various traumas including blunt, and penetrating trauma and trauma caused by blast injury. Reconstructive surgery can also treat birth defects, breathing problems, and failed primary rhinoplasties. Rhinoplasty may remove a bump, narrow nostril width, change the angle between the nose and the mouth, or address injuries, birth defects, or other problems that affect breathing, such as a deviated nasal septum or a sinus condition. Surgery only on the septum is called a septoplasty.

<span class="mw-page-title-main">Choanal atresia</span> Congenital disorder where the nasal passage is blocked

Choanal atresia is a congenital disorder where the back of the nasal passage (choana) is blocked, usually by abnormal bony or soft tissue (membranous) due to failed hole development of the nasal fossae during prenatal development. It causes persistent rhinorrhea, and with bilateral choanal atresia and obstructed airway that can cause cyanosis and hypoxia.

<span class="mw-page-title-main">Coloboma</span> Hole in one of the structures of the eye

A coloboma is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born. Ocular coloboma is relatively uncommon, affecting less than one in every 10,000 births.

<span class="mw-page-title-main">Orthognathic surgery</span> Surgery of the jaw

Orthognathic surgery, also known as corrective jaw surgery or simply jaw surgery, is surgery designed to correct conditions of the jaw and lower face related to structure, growth, airway issues including sleep apnea, TMJ disorders, malocclusion problems primarily arising from skeletal disharmonies, and other orthodontic dental bite problems that cannot be treated easily with braces, as well as the broad range of facial imbalances, disharmonies, asymmetries, and malproportions where correction may be considered to improve facial aesthetics and self-esteem.

<span class="mw-page-title-main">Microtia</span> Medical condition

Microtia is a congenital deformity where the auricle is underdeveloped. A completely undeveloped auricle is referred to as anotia. Because microtia and anotia have the same origin, it can be referred to as microtia-anotia. Microtia can be unilateral or bilateral. Microtia occurs in 1 out of about 8,000–10,000 births. In unilateral microtia, the right ear is most commonly affected. It may occur as a complication of taking Accutane (isotretinoin) during pregnancy.

<span class="mw-page-title-main">Hypertelorism</span> Abnormally increased distance between two body parts, usually the eyes

Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal. Hypertelorism should not be confused with telecanthus, in which the distance between the inner eye corners is increased but the distances between the outer eye corners and the pupils remain unchanged.

<span class="mw-page-title-main">Otocephaly</span> Congenital first branchial arch defect

Otocephaly, also known as agnathia–otocephaly complex, is a very rare and lethal cephalic disorder characterized by the absence of the mandible (agnathia), with the ears fused together just below the chin (synotia). It is caused by a disruption to the development of the first branchial arch. It occurs in every 1 in 70,000 embryos.

<span class="mw-page-title-main">Human nose</span> Feature of the human face

The human nose is the first organ of the respiratory system. It is also the principal organ in the olfactory system. The shape of the nose is determined by the nasal bones and the nasal cartilages, including the nasal septum, which separates the nostrils and divides the nasal cavity into two.

<span class="mw-page-title-main">Frontonasal dysplasia</span> Medical condition

Frontonasal dysplasia (FND) is a congenital malformation of the midface. For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism, a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele or V-shaped hair pattern on the forehead. The cause of FND remains unknown. FND seems to be sporadic (random) and multiple environmental factors are suggested as possible causes for the syndrome. However, in some families multiple cases of FND were reported, which suggests a genetic cause of FND.

<span class="mw-page-title-main">Jaw abnormality</span> Medical condition

A jaw abnormality is a disorder in the formation, shape and/or size of the jaw. In general abnormalities arise within the jaw when there is a disturbance or fault in the fusion of the mandibular processes. The mandible in particular has the most differential typical growth anomalies than any other bone in the human skeleton. This is due to variants in the complex symmetrical growth pattern which formulates the mandible.

A facial cleft is an opening or gap in the face, or a malformation of a part of the face. Facial clefts is a collective term for all sorts of clefts. All structures like bone, soft tissue, skin etc. can be affected. Facial clefts are extremely rare congenital anomalies. There are many variations of a type of clefting and classifications are needed to describe and classify all types of clefting. Facial clefts hardly ever occur isolated; most of the time there is an overlap of adjacent facial clefts.

<span class="mw-page-title-main">Proboscis (anomaly)</span> Facial deformity

In teratology, a proboscis is a blind-ended, tube-like structure, commonly located in the middle of the face. It is commonly seen in severe forms of holoprosencephaly that include cyclopia and is usually the result of abnormal development of the nose.

<span class="mw-page-title-main">Young–Madders syndrome</span> Genetic disorder

Young–Madders syndrome, alternatively known as Pseudotrisomy 13 syndrome or holoprosencephaly–polydactyly syndrome, is a genetic disorder resulting from defective and duplicated chromosomes which result in holoprosencephaly, polydactyly, facial malformations and intellectual disability, with a significant variance in the severity of symptoms being seen across known cases. Many cases often suffer with several other genetic disorders, and some have presented with hypoplasia, cleft lip, cardiac lesions and other heart defects. In one case in 1991 and another in 2000 the condition was found in siblings who were the product of incest. Many cases are diagnosed prenatally and often in siblings. Cases are almost fatal in the prenatal stage with babies being stillborn.

<span class="mw-page-title-main">13q deletion syndrome</span> Medical condition

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XK aprosencephaly is an extremely rare congenital disorder characterized by the absence of the embryonic forebrain. Because the prosencephalon gives way to the cerebral cortex, survival with aprosencephaly is not possible outside utero. The external symptoms are similar to holoprosencephaly, a related disorder, including a smaller than normal head (microcephaly), small eyeballs (microphthalmia), a small mouth (microstomia), anal atresia, and abnormalities of the external genitalia, radius, nostrils, and pharynx (throat).

<span class="mw-page-title-main">Alveolar cleft grafting</span> Surgical procedure

Alveolar cleft grafting is a surgical procedure, used to repair the defect in the upper jaw that is associated with cleft lip and palate, where the bone defect is filled with bone or bone substitute, and any holes between the mouth and the nose are closed.

Filippi syndrome, also known as Syndactyly Type I with Microcephaly and Mental Retardation, is a very rare autosomal recessive genetic disease. Only a very limited number of cases have been reported to date. Filippi Syndrome is associated with diverse symptoms of varying severity across affected individuals, for example malformation of digits, craniofacial abnormalities, intellectual disability, and growth retardation. The diagnosis of Filippi Syndrome can be done through clinical observation, radiography, and genetic testing. Filippi Syndrome cannot be cured directly as of 2022, hence the main focus of treatments is on tackling the symptoms observed on affected individuals. It was first reported in 1985.

References

  1. 1 2 Albernaz, Vanessa; Mauricio Castillo; Suresh K. Mukherji; Ismail H. Ihmeidan (30 October 2005). "Congenital Arrhinia" (PDF). American Journal of Neuroradiology. 17 (7): 1312–1314. PMC   8338532 . PMID   8871717. Archived (PDF) from the original on 27 September 2011. Retrieved 5 November 2009.
  2. 1 2 3 Akkuzu, Guzin; Babur Akkuzu; Erdinc Aydin; Murat Derbent; Levent Ozluoglu (20 September 2007). "Congenital partial arrhinia: a case report". Journal of Medical Case Reports. 1 (1): 97. doi: 10.1186/1752-1947-1-97 . PMC   2064923 . PMID   17883831.
  3. "Aplasia of the nose (Concept Id: C0265740)". www.ncbi.nlm.nih.gov. Retrieved 7 August 2023.
  4. 1 2 3 "Bosma Arhinia Microphthalmia Syndrome". National Organization for Rare Disorders. 20 May 2024. Retrieved 22 July 2024.
  5. 1 2 3 4 Zhang, Mao-mao; Hu, Yang-hong; He, Wei; Hu, Kui-kui (18 March 2014). "Congenital arrhinia: A rare case". The American Journal of Case Reports. 15: 115–118. doi:10.12659/AJCR.890072. PMC   3966695 . PMID   24678375.