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Autosomal dominant multiple pterygium syndrome; Other names: Distal arthrogryposis type 8 [1] Autosomal dominant multiple pterygium syndrome is inherited in an autosomal dominant fashion. Specialty: Dermatology
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 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 epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends.
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 ]
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 ...
Parkes Weber syndrome (PWS) is a congenital disorder of the vascular system.It is an extremely rare condition, and its exact prevalence is unknown. [1] [2] [3] It is named after British dermatologist Frederick Parkes Weber, who first described the syndrome in 1907.
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.