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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]
Popliteal pterygium syndrome (PPS): Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder, first described by Trelat in 1869. The clinical features of the syndrome are highly variable and show different combinations of anomalies like cleft palate, cleft lip, lower lip pits or sinuses, popliteal webbing, syndactyly ...
Mitochondrial myopathy–encephalopathy–lactic acidosis–stroke syndrome; Multiple lentigines syndrome (cardiocutaneous syndrome, Gorlin syndrome II, lentiginosis profusa syndrome, LEOPARD syndrome, progressive cardiomyopathic lentiginosis) Multiple pterygium syndrome; Multiple sulfatase deficiency (Austin disease, mucosulfatidosis)
Symptoms of pterygium include persistent redness, [9] inflammation, [10] foreign body sensation, tearing, dry and itchy eyes. In advanced cases the pterygium can affect vision [ 10 ] as it invades the cornea with the potential of obscuring the optical center of the cornea and inducing astigmatism and corneal scarring. [ 11 ]
Autoimmune polyendocrine syndrome type 1 treatment is based on the symptoms that are presented by the affected individual. Treatments may involve hormone therapy, [13] systemic antifungal treatments, [4] [13] and immunosuppression. [13]
The median time interval between the onset of symptoms and the diagnosis was 6 years, with a range of 26 days to 14 years. This suggests that the symptoms of MAGIC syndrome may manifest relatively long after the initial onset of symptoms. During the course of MAGIC syndrome, the signs and symptoms of BD may typically occur before those of RP. [4]
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.