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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]
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
Tendon transfer: [5] a technique usually considered for young children, in which tendons of index finger or little finger are used to make an adequate new extensor tendon for the thumb. Other procedures. Arthrodesis: fixing the metacarpophalangeal joint of the thumb in a more extension position.
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.
Difference between pterygium and pseudopterygium Pterygium Pseudopterygium Etiology Degenerative process: Inflammatory process Age Common in adults [5] Occur in any age Site Horizontally, most commonly nasally [4] Anywhere Status Progressive(commonly) or stationary [5] Always stationary Neck Adherent to limbus [5] Free Probe test
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]
Smith–Magenis syndrome (SMS), also known as 17p-microdeletion syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. [1] It has features including intellectual disability , facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm.