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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.
Visible plates on the skin and changes in the appearance of the ears and fingers, are symptoms of Harlequin-type ichthyosis. [10] Newborns with harlequin-type ichthyosis present with thick, fissured armor-plate hyperkeratosis. [11] Sufferers feature severe cranial and facial deformities. The ears may be very poorly developed or absent, as may ...
Congenital contractural arachnodactyly (CCA), also known as Beals–Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. [1] As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes. [2]
There is a birth defect of the ear that is visible and relatively common around the world. It is called preauricular sinus which, according to the U.S. National Institutes of Health, or NIH ...
Findings for the incidence of the syndrome in the population have varied, [3] with estimates as low as 1 birth in 200,000 provided [4] and 160,000 given as an average by older studies. [ 5 ] [ 6 ] A study conducted in 1997, however, by the California Birth Defects Monitoring Program found an incidence rate of 1 in 80,645 out of almost 2.5 ...
CHIME syndrome, also known as Zunich–Kaye syndrome or Zunich neuroectodermal syndrome, is a rare congenital ichthyosis first described in 1983. [1] The acronym CHIME is based on its main symptoms: colobomas, heart defects, ichthyosiform dermatosis, intellectual disability, and either ear defects or epilepsy. [2]
Her doctor explained that most babies diagnosed with the condition die before they are born or within 5 to 15 days after birth due to severe defects, said Lopes, who worked as a nurse for 14 years ...
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