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Acrocallosal Syndrome
Acrocallosal syndrome (also known as ACLS) is an extremely rare Dominance (genetics), autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. The syndrome was first described by Albert Schinzel in 1979. Mutations in ''KIF7'' are causative for ACLS, and mutations in ''GLI3'' are associated with a similar syndrome. Signs and symptoms Acrocallosal syndrome (ACLS, ACS, Schinzel-type, Hallux-duplication) is a rare, heterogeneous autosomal recessive disorder first discovered by Albert Schinzel (1979) in a 3-year-old boy. Characteristics of this syndrome include agenesis of the corpus callosum, macrocephaly, hypertelorism, poor motor skills, intellectual disability, Polydactyly, extra fingers and toes (particularly Toe#Hallux, hallux duplication), and cleft palate. Seizures may also occur. Mechanism Mutations in the ''KIF7'' gene are causative for ACLS. KIF7 is a 1343 a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polydactyly
Polydactyly is a birth defect that results in extra fingers or toes. The hands are more commonly involved than the feet. Extra fingers may be painful, affect self-esteem, or result in clumsiness. It is associated with at least 39 genetic mutations. It may either present alone or with other defects. Cases may run in families. The underlying mechanism involves an error in limb bud formation during early development. Diagnosis may occur before birth via prenatal ultrasound as early as nine weeks. X-rays may be useful after a child is a year old. The opposite is oligodactyly (fewer fingers or toes). Treatment varies from removal by cautery to more involved surgery. While putting a tight band around the base has been carried out, this is not typically recommended. If surgery is required, this is often done around two years of age. Occasionally multiple surgeries are required. Polydactyly is present in about 4 to 12 per 10,000 newborns. It is the most common defect of the ha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive - En
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oto-palato-digital Syndrome
Oto-palato-digital syndrome is the generalised term for two conditions, oto-palato-digital syndrome type I (OPD1) and oto-palato-digital syndrome type II (OPD2), that are both X-linked recessive genetic disorders with overlapping phenotypes. The most severe phenotypes of each syndrome occur only in males, with females generally having attenuated forms of the condition, although this does not apply to all individual cases. Some writers conceptualise oto-palato-digital syndrome as a spectrum disorder including two similarly-presenting genetic syndromes, frontometaphyseal dysplasia and Melnick-Needles syndrome. The conditions are characterised by skeletal abnormalities, cleft palate (a hole in the roof of the mouth), and hearing loss. These symptoms are common to craniofacial syndromes as a whole. Hand defects are particularly associated. Of the conditions, OPD1 has the milder phenotype, with normal intelligence and modestly reduced stature. In OPD2, the characteristic facial feat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Young–Madders Syndrome
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. Though it is now thought that earlier cases were misdiagnosed as other genetic disorders with similar pathology—such as Smith–Lemli–Opitz syndrome—the earliest publicised recognition of the condition as a new, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neu–Laxova Syndrome
Neu–Laxova syndrome (NLS, also known as Neu syndrome; Neu-Povýsilová syndrome; or 3-phosphoglycerate dehydrogenase deficiency, neonate form) is a rare autosomal recessive disorder characterized by severe intrauterine growth restriction and multiple congenital malformations. Neu–Laxova syndrome is a very severe disorder, leading to stillbirth or death shortly after birth. It was first described by Dr. Richard Neu in 1971 and Dr. Renata Laxova in 1972 as a lethal disorder in siblings with multiple malformations. Neu–Laxova syndrome is an extremely rare disorder with fewer than 100 cases reported in medical literature. Signs and symptoms Neu-Laxova syndrome presents with severe malformations leading to prenatal or neonatal death. Typically, NLS involves characteristic facial features, decreased fetal movements and skin abnormalities. Fetuses or newborns with Neu–Laxova syndrome have typical facial characteristics which include proptosis (bulging eyes) with eyelid malform ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aicardi Syndrome
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal lacunes, and epileptic seizures in the form of infantile spasms. Other malformations of the brain and skeleton may also occur. The syndrome includes intellectual disability that is usually severe or moderate. So far, the syndrome has only been diagnosed in girls and in boys with two X chromosomes (Klinefelter syndrome). Those with Aicardi syndrome are in need of various specialist and habilitation instances. Epilepsy is treated with medication, but additional treatment may also be needed. In order to utilize the individual's eyesight and investigate the need for visual aids, examination by ophthalmologist is indicated early in life. Problems from the gastrointestinal tract are frequent. In adulthood, continued habilitation efforts and support in daily life are needed. The syndrome is named ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cockayne Syndrome
Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight ( photosensitivity), eye disorders and premature aging.Bender M, Potocki L, Metry D. What syndrome is this? Cockayne syndrome. Pediatric Dermatology erial online November 2003;20(6):538-540. Available from: MEDLINE with Full Text, Ipswich, MA. Accessed April 30, 2015. Failure to thrive and neurological disorders are criteria for diagnosis, while photosensitivity, hearing loss, eye abnormalities, and cavities are other very common features. Problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies, which are conditions characterized by degradation of neurological white matter. There are two primary types of Cockayne syndrome: Cockayne syndrome type A (CSA), arising from mu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rubinstein–Taybi Syndrome
Rubinstein–Taybi syndrome (RTS) is a rare genetic condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected individuals. These characteristics are caused by a mutation or deletion in the '' CREBBP'' gene, located on chromosome 16, and/or the ''EP300'' gene, located on chromosome 22. This condition is sometimes inherited as an autosomal dominant pattern, but often as a de novo. It affects an estimated 1 in 125,000-300,000 births. Presentation Facial features (A), left hand and feet showing broad thumb and big toes (B, C) and X-ray of both hands showing short broad thumbs (D). (Limb Malformations & Skeletal Dysplasia) Rubinstein–Taybi syndrome presents itself from birth, and is usually hallmarked by delayed physical and cognitive growth. Typical features of the disorder include: * Broad thumbs and broad first toes and clinodactyly of the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Smith–Lemli–Opitz Syndrome
Smith–Lemli–Opitz syndrome is an inborn error of metabolism, inborn error of cholesterol synthesis. It is an autosome, autosomal recessive (genetics), recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase encoded by the DHCR7 gene. It causes a broad spectrum of effects, ranging from mild intellectual disability and behavioural problems to lethal malformations. Signs and symptoms SLOS can present itself differently in different cases, depending on the severity of the mutation and other factors. Originally, SLOS patients were classified into two categories (classic and severe) based on physical and mental characteristics, alongside other clinical features. Since the discovery of the specific biochemical defect responsible for SLOS, patients are given a severity score based on their levels of cerebral, ocular, oral, and genital defects. It is then used to classify patients as having mild, classical, or severe SLOS. Physical ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Meckel–Gruber Syndrome
Meckel-Gruber syndrome is a rare, lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly (postaxial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios. Meckel–Gruber syndrome is named for Johann Meckel and Georg Gruber. The prognosis for infants born with Meckel-Gruber syndrome is poor, most being stillborn or dying within hours to days. Pathophysiology Meckel–Gruber syndrome (MKS) is an autosomal recessive lethal malformation. Two MKS genes, MKS1 and MKS3, have been associated with the disorder. A study done recently has described the cellular, sub-cellular and functional characterization of the novel proteins, MKS1 and meckelin, encoded by these genes. The malfunction in the production of these proteins is mainly responsible for this lethal disorder. Relation to other rare genetic disorders Recent findings in genetic research have sug ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orofaciodigital Syndrome
Orofaciodigital syndrome or oral-facial-digital syndrome is a group of at least 13 related conditions that affect the development of the Human mouth, mouth, facial features, and Digit (anatomy), digits in between 1 in 50,000 to 250,000 newborns with the majority of cases being type I (Papillon-League-Psaume syndrome). __TOC__ Type The different types are:s * Type I, Orofaciodigital syndrome 1, Papillon-League-Psaume syndrome * Type II, Mohr syndrome * Type III, Sugarman syndrome * Type IV, Baraitser-Burn syndrome * Type V, Thurston syndrome * Type VI, Varadi-Papp syndrome * Type VII, Whelan syndrome * Type VIII, Oral-facial-digital syndrome, Edwards type (not to be confused with Edwards syndrome) * Type IX, OFD syndrome with retinal abnormalities * Type X, OFD with fibular aplasia * Type XI, Gabrielli syndrome References External links Rare syndromes Syndromes affecting teeth {{genetic-disorder-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pallister–Hall Syndrome
Pallister–Hall syndrome (PHS) is a rare genetic disorder that affects various body systems. The main features are a non-cancerous mass on the hypothalamus ( hypothalamic hamartoma) and extra digits ( polydactylism). The prevalence of Pallister-Hall Syndrome is unknown; about 100 cases have been reported in publication. History The syndrome was originally described by American and Canadian geneticistPhilip Pallisterand Judith Hall in their research of newborn deaths due to pituitary failure. Subsequent discovery of living children and adults expanded the understanding of the syndrome and established the transmission pattern within families. Presentation The main characteristics of the syndrome are extra fingers and/or toes (polydactyly), with the skin between some fingers or toes potentially fused or "webbed" (cutaneous syndactyly), and a benign mass or lesion in the brain called a hypothalamic hamartoma. This benign tumor may not cause any medical problems; however, some hypot ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
