Weyer's ulnar ray/oligodactyly syndrome | |
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Specialty | Medical genetics |
Symptoms | Ulnar ray deficit, heart, renal and splenic abnormalities and ectrodactyly |
Complications | Possible death (due to e.g. the cardiac and renal problems) |
Usual onset | Birth |
Duration | Life-long |
Causes | Genetic mutation |
Prevention | None |
Prognosis | Ok |
Frequency | Very rare. only 4 families known to carry the gene/be affected by the gene |
Deaths | - |
Weyer's ulnar ray/oligodactyly syndrome is a rare multi-systemic genetic disorder which is characterized by ectrodactyly, ulnar, radial, or fibular ray deficit, and heart, single central incisor, splenic, and renal abnormalities. Cleft lip/palate and hypoplasia of the mandibles have also been observed. [1] It is thought to be inherited in an autosomal recessive pattern. [2] It was first discovered in 1957 by Weyers et al. Only four families worldwide are known to be affected by the disorder. [3] [4] [5]
Abruzzo–Erickson syndrome is an extremely rare disorder characterized by deafness, protruding ears, coloboma, a cleft palate or palatal rugosity, radial synostosis, and short stature. It was first characterized by Abruzzo and Erickson in 1977 as a CHARGE like syndrome as variably expressed among a family of two brothers, their mother, and their maternal uncle. Members of this family exhibited many of the CHARGE symptoms, but notably did not have choanal atresia and the brothers experienced typical genital development. Due to the recent discovery of this disorder, its etiology is not fully known but it is understood that it arises from mutations on the TBX22 gene on the X-chromosome. The disorder is inherited in an X-linked recessive manner. There is currently no known cure but its symptoms can be treated.
Duane-radial ray syndrome, also known as Okihiro Syndrome, is a rare autosomal dominant disorder that primarily affects the eyes and causes abnormalities of bones in the arms and hands. This disorder is considered to be a SALL4-related disorder due to the SALL4 gene mutations leading to these abnormalities. It is diagnosed by clinical findings on a physical exam as well as genetic testing and imaging. After being diagnosed, there are other evaluations that one may go through in order to determine the extent of the disease. There are various treatments for the symptoms of this disorder.
Yunis–Varon syndrome (YVS), also called cleidocranial dysplasia with micrognathia or absent thumbs and distal aphalangia, is an extremely rare autosomal recessive multisystem congenital disorder which affects the skeletal system, ectodermal tissue, heart and respiratory system. It was first described by Emilio Yunis and Humberto Váron from the National University of Colombia.
Spondylocostal dysostosis, also known as Jarcho-Levin syndrome (JLS), is a rare, heritable axial skeleton growth disorder. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis. Individuals with Jarcho-Levin typically appear to have a short trunk and neck, with arms appearing relatively long in comparison, and a slightly protuberant abdomen. Severely affected individuals may have life-threatening pulmonary complications due to deformities of the thorax. The syndrome was first described by Saul Jarcho and Paul M. Levin at Johns Hopkins University in 1938.
Oligodactyly is the presence of fewer than five fingers or toes on a hand or foot.
Ectrodactyly, split hand, or cleft hand involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly (ectrodactyls) are often described as "claw-like" and may include only the thumb and one finger with similar abnormalities of the feet.
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.
Hypertension and brachydactyly syndrome (HTNB), also known as Bilginturan syndrome and brachydactyly type E among others, is a very rare genetic disorder.
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).
Hecht Scott syndrome is a rare genetic disease that causes congenital limb formation. The main characterisation is the aplasia or hypoplasia of bones of the limb. It is currently presenting in less than 1 in 1,000,000 newborns. It has been known to be more commonly present in males. It was first diagnosed in 2005 by Courtens et al. who recognised the malformations with his present case and four others that were similarly described in literature.
Hand and foot deformity with flat facies is a rare congenital malformation syndrome, where an individual has features such as facial dysmorphism, short stature, and other malformations with the limbs.
Familial opposable triphalangeal thumb duplication is a limb malformation syndrome and a type of pre-axial polydactyly, characterized by having duplicated opposable triphalangeal thumbs. This condition can be a symptom of other genetic disorders, such as Holt–Oram syndrome and Fanconi anemia. This trait is autosomal dominant and often runs in families. Sometimes big toe duplication, post-axial polydactyly, and syndactyly of the hand and feet can occur alongside this malformation Approximately 20 families with the condition have been described in medical literature.
Van Den Berghe Dequeker syndrome, also known as ulnar hypoplasia-split foot syndrome is a very rare congenital limb malformation syndrome which is characterized by severe ulnar hypoplasia, absence of the index to pinky finger in both hands, and split-foot.
Multiple congenital anomalies-hypotonia-seizures syndrome is a rare multi-systemic genetic disorder which is characterized by developmental delay, seizures, hypotonia and heart, urinary, and gastrointestinal abnormalities.
Santos–Mateus–Leal syndrome, also known as Hirschsprung's disease-deafness-polydactyly syndrome is a very rare autosomal recessive limb malformation which is characterized by Hirschsprung's disease, feet and hand polydactyly, unilateral renal agenesis, and congenital hearing loss. Only 2 cases have been described in medical literature.
Absent tibia-polydactyly-arachnoid cyst syndrome, also known as Holmes-Collins syndrome, is a very rare multi-systemic hereditary disorder which is characterized by facial dysmorphisms, pre/post-axial polydactyly, toe syndactyly, missing/underdeveloped tibia bone, and the presence of a retrocerebellar arachnoid cyst. Additional findings include clubbed feet, cleft lip, diaphragm agenesis, and radial and ulnar anomalies.
Combarros–Calleja–Leno syndrome is a very rare genetic disorder which is characterized by a combination of ataxia indistinguishable from Friedreich's ataxia and congenital glaucoma. Additional findings include pes cavus and generalized areflexia. It has been described in 7 members from a consanguineous Spanish family.
Palmoplantar keratoderma with deafness, also known as Palmoplantar keratoderma-deafness syndrome is a rare genetic disorder which is characterized by either focal or diffuse early-onset palmoplantar keratoderma and sensorineural deafness. Transmission is autosomal dominant with incomplete penetrance.
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia syndrome is a rare genetic bone disorder which is characterized by the presence of wormian bones in the skull, dentinogenesis imperfecta, recurrent bone fractures, hypertelorism, and eye puffiness. This disorder is unique from osteogenesis imperfecta because of the presence of cortical defects and the absence of defective collagen or osteopenia. It is not exactly known whether this condition is autosomal dominant or autosomal recessive.
Buttien-Fryns syndrome is a congenital genetic disorder that causes severe oligodactyly and micrognathia. It is caused by a change in the structure of the 10q gene. The condition has been reported in four patients, two of which were siblings.