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Camptodactyly
Camptodactyly is a medical condition that causes one or more fingers or toes to be permanently bent. It involves fixed flexion deformity of the proximal interphalangeal joints. Camptodactyly can be caused by a genetic disorder. In that case, it is an autosomal dominant trait that is known for its incomplete genetic expressivity. This means that when a person has the genes for it, the condition may appear in both hands, one, or neither. A linkage scan proposed that the chromosomal locus of camptodactyly was 3q11.2-q13.12. Causes The specific cause of camptodactyly remains unknown, but there are a few deficiencies that lead to the condition. A deficient lumbrical muscle controlling the flexion of the fingers, and abnormalities of the flexor and extensor tendons. A number of congenital syndromes may also cause camptodactyly: * Jacobsen syndrome * Beals syndrome * Blau syndrome * Freeman–Sheldon syndrome * Cerebrohepatorenal syndrome * Weaver syndrome * Christian syndrome 1 * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tel Hashomer Camptodactyly Syndrome
Tel Hashomer camptodactyly syndrome is a rare genetic disorder which is characterized by camptodactyly,( a condition where one or more fingers or toes are permanently bent), facial dysmorphisms, and fingerprint, skeletal and muscular abnormalities.This disorder is thought to be inherited in an autosomal recessive fashion. Presentation This disorder has symptoms that affect the feet, hands, muscles, fingerprints, skeleton, heart and back, these include: talipes equinovarus (clubfeet), thenar/hypothenar hypoplasia, abnormalities of the palmar crease and the fingerprints, hypertelorism, long philtrum, spina bifida, and mitral valve prolapse. Etimology This disorder was discovered in the late 1960s-mid 1970s by Richard M Goodman. a US-born geneticist working in Tel Aviv, Israel, since 2016, only 23 cases of this disorder have been reported in medical literature. Cases The following is a list of every case report of the disorder. # Goodman et al. describes Tel-Hashomer cam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fryns Syndrome
Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period. Fryns (1987) reviewed the syndrome. Presentation Usually associated with diaphragmatic hernia, pulmonary hypoplasia, imperforate anus, micropenis, bilateral cryptorchidism, cerebral ventricular dilation, camptodactyly, agenesis of sacrum, low-set ear. Cytogenetics In a newborn boy thought to have Fryns syndrome, Clark and Fenner-Gonzales (1989) found mosaicism for a tandem duplication of 1q24-q31.2. They suggested that the gene for this disorder is located in that region. However, de Jong et al. (1989), Krassikoff and Sekhon (1990), and Dean et al. (1991) found possible Fryns syndrome associated with anomalies of chromosome 15, chromosome 6, chromosome 8 and chromosome 22, respectively. Thus, these cases may all represent mimics of the mendelian syndrome and have no significance as to the location of the gene for the recessive disorder. By array CGH, Slavo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blau Syndrome
Blau syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and joints. It is caused by a mutation in the ''NOD2'' (''CARD15'') gene. Symptoms usually begin before the age of four, and the disease manifests as early onset cutaneous sarcoidosis, granulomatous arthritis, and uveitis. Presentation Cause The elucidation that the gene defect in Blau syndrome involves the ''CARD15''/''NOD2'' gene has stimulated many investigators to define how this gene operates as part of the innate immune system. The innate immune system recognizes pathogen-associated molecular patterns, including bacterial polysaccharides such as muramyl dipeptide, via its pattern recognition receptors, such as NOD2, to induce signaling pathways that activate cytokine responses and protect the organism. In Blau syndrome, the genetic defect seems to lead to overactivation and poor control of the inflammatory response leading to widespread granulomatous inflammation and tissue d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Weaver Syndrome
Weaver syndrome is a rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation and distinctive craniofacial, skeletal and neurological abnormalities. It is similar to Sotos syndrome and is classified as an overgrowth syndrome. Its genetic cause was identified in 2011 as mutations in the ''EZH2'' gene. Forty-eight cases had been documented and confirmed , and its prevalence is estimated to be similar to that of Sotos syndrome, around 1 in 15,000. It was first described by American physician David Weaver in 1974. Signs and symptoms Children with Weaver syndrome tend to look similar and have distinctive physical and craniofacial characteristics, which may include several, but not all, of the following features: * Macrocephaly * Large bifrontal diameter * Flattened occiput * Long philtrum * Retrognathia * Round face in infancy * Promine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Loeys–Dietz Syndrome
Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta. Aneurysms and dissections also can occur in arteries other than the aorta. Because aneurysms in children tend to rupture early, children are at greater risk for dying if the syndrome is not identified. Surgery to repair aortic aneurysms is essential for treatment. There are five types of the syndrome, labelled types I through V, which are distinguished by their genetic cause. Type 1, Type 2, Type 3, Type 4 and Type 5 are caused by mutations in '' TGFBR1'', ''TGFBR2'', '' SMAD3'', ''TGFB2'', and ''TGFB3'' respectively. These five genes encoding transforming growth factors play a role in cell signaling that promotes growth and development of the body's tissu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Beals Syndrome
Congenital contractural arachnodactyly (CCA), also known as Beals-Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes. However, Beals and Hecht discovered in 1972 that, unlike Marfan's, CCA is caused by mutations to the fibrillin-2 (''FBN2'') gene rather than the fibrillin-1 (''FBN1'') gene. Signs and symptoms CCA is characterized by contractures of varying degrees, mainly involving the large joints, which are present in all affected children at birth. The contractures may be mild and tend to improve over time, but permanently bent fingers and toes (camptodactyly) are almost always present. In addition to long fingers and toes and a tall, slender body, people with CCA often have ears that appear to be crumpled, joint stiffness and underdeveloped muscles (muscular hypoplasia), and they may have curved spines (congenita ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Journal Of Medical Genetics
The ''Journal of Medical Genetics'' is a monthly peer-reviewed medical journal covering all aspects of medical genetics, including reviews of and opinion on the latest developments. It was established in 1964 and is published by the BMJ Group. The editor-in-chief is Huw Dorkins (University of Oxford). Abstracting and indexing The journal is abstracted and indexed in the Science Citation Index, BIOSIS Previews, Index Medicus/MEDLINE, Current Contents, Scopus, Embase, and CINAHL. According to the ''Journal Citation Reports'', the journal has a 2020 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly mean number of citations of articles published in the last two years in a given journal, as i ... of 6.318. References External links * BMJ Group academic journals Monthly journals Publications established in 1964 English-language journals Medical genetics journa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trisomy 13
A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. A trisomy is a type of aneuploidy (an abnormal number of chromosomes). Description and causes Most organisms that reproduce sexually have pairs of chromosomes in each cell, with one chromosome inherited from each parent. In such organisms, a process called meiosis creates cells called gametes (eggs or sperm) that have only one set of chromosomes. The number of chromosomes is different for different species. Humans have 46 chromosomes (i.e. 23 pairs of chromosomes). Human gametes have only 23 chromosomes. If the chromosome pairs fail to separate properly during cell division, the egg or sperm may end up with a second copy of one of the chromosomes. (''See'' non-disjunction.) If such a gamete results in fertilization and an embryo, the resulting embryo may also have an entire copy of the extra chromosome. Terminology The number of chromosomes in the cell ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Toriello–Carey Syndrome
Toriello–Carey syndrome is a genetic disorder that is characterized by Pierre Robin sequence and agenesis of the corpus callosum. Children with the disorder also possess a characteristic facial phenotype. Presentation One of the main characteristics of the disorder is its facial phenotype. Children have hypertelorism or telecanthus, small nose, short or sparse eyelashes, oral anomalies (such as cleft palate, Pierre Robin sequence, and micrognathism), abnormal ears, and a short neck. Regarding growth and development, children experience mental retardation and post-natal growth failure (such as failure to thrive and delayed milestone). Neurological abnormalities include defects of the corpus callosum, hypotonia, and hearing loss. Causes The etiology of the disorder is not fully understood. Genetic anomalies have been found in approximately 20% of patients. Genetic analysis of these patients suggests Toriello–Carey syndrome is a heterogeneous disorder. Candidate genes include '' M ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
