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Kyphosis (from Greek κυφός (kyphos) 'hump') is an abnormally excessive convex curvature of the spine as it occurs in the thoracic and sacral regions. [1] [2] Abnormal inward concave lordotic curving of the cervical and lumbar regions of the spine is called lordosis.
A widow's peak is a V-shaped point in the hairline in the center of the forehead. Hair growth on the forehead is suppressed in a bilateral pair of periorbital fields. Without a widow's peak, these fields join in the middle of the forehead so as to give a hairline that runs straight across.
Because most children with MPS I (Hurler Syndrome) also exhibit symptoms of a gibbus deformity, the latter can possibly be used to identify the former. [9] Gibbus deformity is included in a subset of structural kyphosis that is distinguished by a higher-degree angle in the spinal curve that is specific to these forms of kyphosis.
People with Aarskog–Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth , and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during ...
The lack of functional megalin in the renal tubules causes megalin's various ligands to be excreted in the urine rather than being absorbed back into the bloodstream. The features of Donnai–Barrow syndrome are probably caused by the inability of megalin to help absorb these ligands, disruption of biochemical signaling pathways, or other ...
Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull).
Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage. [1] [2] A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined.
Nail clubbing, also known as digital clubbing or clubbing, is a deformity of the finger or toe nails associated with a number of diseases, anomalies and defects, some congenital, mostly of the heart and lungs.