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The syndactyly was mitten-like and resembled Apert syndrome but was excluded as being caused by Apert syndrome due to the lack of bony involvement. Causes. This condition is caused by duplications in chromosome 2 near-identical to those responsible for syndactyly type 1 (Chromosome 2q35 Duplication Syndrome). References
in human male karyogram. 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 (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells .
Complex syndactyly occurs as part of a syndrome (such as Apert syndrome) and typically involves more digits than simple syndactyly. Fenestrated syndactyly, also known as acrosyndactyly or terminal syndactyly, [2] means the skin is joined for most of the digit but in a proximal area there are gaps in the syndactyly with normal skin.
A high-arched palate (also termed high-vaulted palate) is where the palate is unusually high and narrow. It is usually a congenital developmental feature that results from the failure of the palatal shelves to fuse correctly in development, the same phenomenon that leads to cleft palate. [1] It may occur in isolation or in association with a ...
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. [2] Other malformations of the brain and skeleton may also occur.
Malan syndrome is defined by initial overgrowth and mild-to-severe intellectual disability. Almost all individuals with Malan syndrome display above-average height, weight, and head circumference in early life, but only one-third of adults with Malan syndrome are >2 standard deviations above the mean. Most individuals display advanced bone age.
Holoprosencephaly ( HPE) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres, typically occurring between the 18th and 28th day of gestation. [1] Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy.
Curry–Jones syndrome is a rare genetic disorder characterized by congenital brain, osseous, cutaneous, ocular, and intestinal anomalies. Signs and symptoms [ edit ] Individuals with this condition usually have the following symptoms: [1]