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There is no known specific treatment for this condition. Management is supportive.
Nager syndrome is thought to be caused by haploinsufficiency of the spliceosomal factor SF3B4.
Nager acrofacial dysostosis is a genetic congenital anomaly syndrome. Nager syndrome displays several or all of the following characteristics: underdevelopment of the cheek and jaw area, down-sloping of the opening of the eyes, lack or absence of the lower eyelashes, kidney or stomach reflux, hammer toes, shortened soft palate, lack of development of the internal and external ear, possible cleft palate, underdevelopment or absence of the thumb, hearing loss (see hearing loss with craniofacial syndromes) and shortened forearms, as well as poor movement in the elbow, and may be characterized by accessory tragi. Occasionally, affected individuals develop vertebral anomalies such as scoliosis. The inheritance pattern is said to be autosomal but there are arguments as to whether it is autosomal dominant or autosomal recessive. Most cases tend to be sporadic. Nager syndrome is also linked to five other similar syndromes: Miller syndrome, Treacher Collins, Pierre Robin, Genee-Wiedemann, and Franceschetti-Zwahlen-Klein.
The varied signs and symptoms of Duane-radial ray syndrome often overlap with features of other disorders.
- For example, acro-renal-ocular syndrome is characterized by Duane anomaly and other eye abnormalities, radial ray malformations, and kidney defects. Both conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Duane-radial ray syndrome and acro-renal-ocular syndrome are separate disorders or part of a single syndrome with many possible signs and symptoms.
- The features of Duane-radial ray syndrome also overlap with those of a condition called Holt-Oram syndrome; however, these two disorders are caused by mutations in different genes.
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.
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.
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.
There is currently recruitment for a clinical trial at Boston's Children Hospital.
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.
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.
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.
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.
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.
Asymmetric crying facies (ACF), also called Cayler cardiofacial syndrome, partial unilateral facial paresis and hypoplasia of depressor angula oris muscle, is a minor congenital anomaly caused by agenesis or hypoplasia of the depressor anguli oris muscle, one of the muscles that control the movements of the lower lip. This unilateral facial weakness is first noticed when the infant cries or smiles, affecting only one corner of the mouth and occurs on the left side in nearly 80% of cases. It is associated with other birth defects in more than 50% of cases.
When the hypoplasia of the depressor anguli oris muscle is associated with congenital cardiac defects, the term 'Cayler cardiofacial syndrome' is used.
Cayler syndrome is part of 22q11.2 deletion syndrome.
It was characterized by Cayler in 1969.
Fleischer's syndrome is an extremely rare congenital anomaly characterized by displacement of the nipples, occasional polymastia, and hypoplasia of both kidneys.
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.
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.
Although rare, this condition is often treatable with surgery. In most cases, the blind hemivagina is opened, and the fluid drained.
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
Cryptophthalmos is a rare congenital anomaly in which the skin is continuous over the eyeball with absence of eyelids. It is classified into three types: complete, incomplete and abortive. Failure of eyelid separation can be associated with maldevelopment of the underlying cornea and microphthalmia. Cryptophthalmos usually occurs on both sides and occurs in association with other multiple malformations collectively referred to as Fraser syndrome.
Minor degrees of curvature are common. Reports of incidence vary between 1% and 19.5%.
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.
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.