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Autosomal dominant multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant fashion. [2] Society
Bartsocas-Papas syndrome is a form of popliteal pterygium syndrome and is a very rare disease characterized by congenital craniofacial anomalies, popliteal webbing, and genitourinary and musculoskeletal anomalies. It was first described by Dr. Christos Bartsocas and is more specifically an autosomal recessive popliteal pterygium syndrome. [8]
Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin. [1] [2] It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance. [3] Kabuki syndrome (KS) affects roughly one in ...
A webbed neck, or pterygium colli, is a congenital skin fold that runs along the sides of the neck down to the shoulders. There are many variants. There are many variants. Signs and symptoms
Multiple congenital anomalies-hypotonia-seizures syndrome is a rare multi-systemic genetic disorder which is characterized by developmental delay, seizures, hypotonia and heart, urinary, and gastrointestinal abnormalities.
The cause of pterygium inversum unguis is unknown. Congenital pterygium inversum unguis is assumed to be brought on by an early abnormality in the fetal ridge and groove formation. [5] Idiopathic forms of pterygium inversum unguis may result from the nail bed's distal expansion, which often aids in the creation of the nail plate. [6]
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Popliteal pterygium syndrome, a congenital condition affecting the face, limbs, or genitalia but named after the wing-like structural anomaly behind the knee. Pterygium (eye) or surfer's eye, a growth on the cornea of the eye. Pterygium colli or webbed neck, a congenital skin fold of the neck down to the shoulders.