| Acropectoral syndrome | |
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| Acropectoral syndrome has an autosomal dominant pattern of inheritance. |
Acropectoral syndrome is an autosomal dominant skeletal dysplasia syndrome affecting the hands, feet, sternum, and lumbosacral spine. A recently proposed candidate gene for preaxial polydactyly is LMBR1, encoding a novel transmembrane receptor, which may be an upstream regulator of SHH. [1] The LMBR1 gene is on human chromosome 7q36. [2]
Some individuals have preaxial polydactyly in the feet (unilateral in one, bilateral in 13), consisting of a small extra biphalangeal toe, in most cases with an associated rudimentary extra metatarsal, lying in a soft tissue web between the hallux and second toe. In some cases, this was accompanied by hypoplasia of the head of the first metatarsal and absence of both phalanges of the hallux. [1]
The cytogenetic location is 7q36 and genomic coordinates are GRCh37:147,900,000 - 159,138,663 (NCBI). Mapping of this syndrome was done by Dundar and coworkers in 2001. They showed that this phenotype was linked to a 6.4-cM region of 7q36 flanked by the EN2 gene and the marker D7S2423. Dundar and coworkers characterized and mapped acropectoral syndrome and also showed it was unrelated to acropectorovertebral syndrome. The mapping showed that the acropectoral locus was in a region where preaxial polydactyly and triphalangeal thumb-polysyndactyly had previously been mapped. This study was important because it expanded the range of phenotypes that are connected to this locus. Previously, preaxial polydactyly and sternal defects have been linked to ectopic expression of the gene Sonic hedgehog Shh in limbbud and lateral plate mesoderm during development in mice. Dundar and coworkers found that the LMBR1 gene links to pre axial polydactyly. This gene encodes for a new transmembrane receptor and it is proposed that this receptor is an upstream regulator of SHH. [1]
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Polydactyly or polydactylism, also known as hyperdactyly, is an anomaly in humans and non-human animals resulting in supernumerary fingers and/or toes. Polydactyly is the opposite of oligodactyly.
Toes are the digits of the foot of a tetrapod. Animal species such as cats that walk on their toes are described as being digitigrade. Humans, and other animals that walk on the soles of their feet, are described as being plantigrade; unguligrade animals are those that walk on hooves at the tips of their toes.
Genetics, a discipline of biology, is the science of heredity and variation in living organisms.
In genetics, expressivity is the degree to which a phenotype is expressed by individuals having a particular genotype. Alternatively, it may refer to the expression of a particular gene by individuals having a certain phenotype. Expressivity is related to the intensity of a given phenotype; it differs from penetrance, which refers to the proportion of individuals with a particular genotype that share the same phenotype.
Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals. but is an unusual condition in humans. The term is from Greek σύν, syn 'together' and δάκτυλος, daktulos 'finger'.
Chromosome 21 is one of the 23 pairs of chromosomes in humans. Chromosome 21 is both the smallest human autosome and chromosome, with 45 million base pairs representing about 1.5 percent of the total DNA in cells. Most people have two copies of chromosome 21, while those with three copies of chromosome 21 have Down syndrome.
A polydactyl cat is a cat with a congenital physical anomaly called polydactyly, which causes the cat to be born with more than the usual number of toes on one or more of its paws. Cats with this genetically inherited trait are most commonly found along the East Coast of North America and in South West England and Wales.
Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA. It represents about 8% of the total DNA in human cells.
Chromosome 2 is one of the twenty-three pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second-largest human chromosome, spanning more than 242 million base pairs and representing almost eight percent of the total DNA in human cells.
Chromosome 7 is one of the 23 pairs of chromosomes in humans, who normally have two copies of this chromosome. Chromosome 7 spans about 160 million base pairs and represents between 5 and 5.5 percent of the total DNA in cells.
Chromosome 10 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 10 spans about 134 million base pairs and represents between 4 and 4.5 percent of the total DNA in cells.
Chromosome 11 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome. Chromosome 11 spans about 135 million base pairs and represents between 4 and 4.5 percent of the total DNA in cells. The shorter arm is termed 11p while the longer arm is 11q. At about 21.5 genes per megabase, chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome.
Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 84 million base pairs and represents between 2.5 and 3% of the total DNA in cells.
Zinc finger protein GLI3 is a protein that in humans is encoded by the GLI3 gene.
Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux).
Limb region 1 protein homolog is a protein that in humans is encoded by the LMBR1 gene.
Diplopodia is a congenital anomaly in tetrapods that involves duplication of elements of the foot on the hind limb. It comes from the Greek roots diplo = "double" and pod = "foot". Diplopodia is often found in conjunction with other structural abnormalities and can be lethal. It is more extreme than polydactyly, the presence of extra digits.
Polysyndactyly is a congenital anomaly, combining polydactyly and syndactyly, in which affected individuals have an extra finger or toe that is connected, via fusing or webbing, to an adjacent digit.
Munis Dundar is a professor of Medical Genetics and Head of the Medical Genetics Department at Erciyes University, Kayseri, Turkey. He is founder and head of the Medical Genetics Department at Erciyes University and has carried out various administrative tasks since 1996. He defined four genetic syndromes in the medical literature: the “Dundar Syndrome”, “Dundar Acropectoral Syndrome”, “Scoliosis, Blindness and Arachnodactyly Syndrome” and “Multiple Congenital Abnormalities and Mental Retardation Syndrome”. He has taken part as project coordinator and assistant investigator in many research projects and has prepared articles published in international journals since 1995. He is the president of EBTNA and representative from Turkey. He is also the editor-in-chief of The EuroBiotech Journal.
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.