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Autosomal dominant multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant fashion. [2] Society
Anterior segment mesenchymal dysgenesis, or simply anterior segment dysgenesis, is a failure of the normal development of the tissues of the anterior segment of the eye. It leads to anomalies in the structure of the mature anterior segment, associated with an increased risk of glaucoma and corneal opacity.
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
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.
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)
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]
A pterygium of the eye (pl.: pterygia or pterygiums, also called surfer's eye) is a pinkish, roughly triangular tissue growth of the conjunctiva onto the cornea of the eye. [2] It typically starts on the cornea near the nose. [ 3 ]
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]