Made by DATEXIS (Data Science and Text-based Information Systems) at Beuth University of Applied Sciences Berlin
Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
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.
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.
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.
Although rare, this condition is often treatable with surgery. In most cases, the blind hemivagina is opened, and the fluid drained.
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.
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.
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.
SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems.
It was characterized in 1975.
The surgical treatment involves the resection of the extracranial venous package and ligation of the emissary communicating vein. In some cases of SP, surgical excision is performed for cosmetic reasons. The endovascular technique has been described by transvenous approach combined with direct puncture and the recently endovascular embolization with Onyx.
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.
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.
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.
Axenfeld syndrome (also known as Axenfeld-Rieger syndrome or Hagedoom syndrome) is a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region.
Type II should be managed conservatively whereas type I and Ia requires to be treated surgically. Surgery involves four major steps:
- Development of the calcaneal part of the foot
- Repositioning of the navicular bone
- New adjustment of the ankle, and
- Various stabilization measures including the Grice operation and transposition of various tendons.
Cebocephaly [Greek "kebos", monkey + "kephale", head] is a developmental anomaly of the head characterized by a monkey-like head, with a defective small, flattened nose with a single nostril or absent nose and closely set eyes. Cebocephaly is part of a group of defects called holoprosencephaly. The incidence of cebocephaly is 1 in 16,000 births.
Fleischer's syndrome is an extremely rare congenital anomaly characterized by displacement of the nipples, occasional polymastia, and hypoplasia of both kidneys.
Stratton parker syndrome is a rare disorder characterized by short stature, wormian bones (extra cranial bones), and dextrocardia (displaced heart). Other symptoms include dermatoglyphics, tooth deformities or missing teeth, abnormal kidney development, shortened limbs, mental retardation, undescended testes or cryptorchidism, and anal atresia. The condition was first described by Stratton and Parker in 1989, and there have been only four reported cases worldwide. Two cases of the syndrome were reported by Gilles-Eric Seralini in 2010 after having been contacted in January 2009.
Alternative names include "Growth Hormone Deficiency with Wormian Bones, Cardiac Anomaly, and Brachycamptodactyly" and "Short stature wormian bones dextrocardia"
Wildervanck syndrome or cervico-oculo-acoustic syndrome comprises a triad of:
- Duane syndrome
- Klippel-Feil anomaly (fused cervical vertebrae)
- congenital hearing loss
Pancreas divisum in individuals with no symptoms does not require treatment. Treatment of those with symptoms varies and has not been well established. A surgeon may attempt a sphincterotomy by cutting the minor papilla to enlarge the opening and allow pancreatic enzymes to flow normally. During surgery, a stent may be inserted into the duct to ensure that the duct will not close causing a blockage. This surgery can cause pancreatitis in patients, or in rare cases, kidney failure and death.
An association with adenoma of the minor papilla has been reported.
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.
After the surgery, some patients require intubation and mechanical ventilation for several days to allow adequate tracheal toilet, but most patients can have the tubes removed soon after the surgery. The obstructive airway symptoms may be worse in the first postoperative weeks. Only a few patients have immediate relief of stridor, but many obtain immediate relief of problems with swallowing (dysphagia). After extubation, it might be necessary to maintain positive airway pressure by appropriate flows of a humidified oxygen/air mixture.