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Approximately one third of individuals born with Carpenter syndrome have a type of heart defect. Commonly seen heart defects may include: narrowing of the pulmonary artery, transposition of the major blood vessels, or the presence of an abnormally large vena cava, which delivers blood back to the heart from the head, neck, and upper limbs.
Brachydactyly type D, also known as short thumb, [3] [1] stub thumb, [5] [6] or clubbed thumb, [5] [6] is a genetic trait recognised by a thumb being relatively short and round with an accompanying wider nail bed. The distal phalanx of such thumbs is approximately two-thirds the length of full-length thumbs.
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).
Klippel–Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck (cervical vertebrae). [1]: 578 It can result in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline ...
This is the rarest form of brachydactyly. It is most often part of another condition that someone is born with. Type E shortens the bones in the hands and feet along with the bottom bone in the fingers. Instead of making the fingers and toes look shorter, it makes the hands and feet look smaller. [9] Type B and E: 112440: ROR2 HOXD13: 9q22 ...
Congenital insensitivity to pain (CIP), also known as congenital analgesia, is one or more extraordinarily rare conditions in which a person cannot feel (and has never felt) physical pain. [1] The conditions described here are separate from the HSAN group of disorders, which have more specific signs and cause.
Brachydactyly-long thumb syndrome is a very rare genetic disorder which is characterized by symmetric brachydactyly of the fingers accompanied by an abnormally long thumb, hypomobility of the shoulder and metacarpo-phalangeal joints, and heart conduction defects.
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.