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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]
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.
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 (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 ...
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]
Smith-Kingsmore syndrome is a rare genetic disorder that is caused by gain-of-function mutation in a gene MTOR. The facial features of this syndrome are triangular face with a pointed chin, frontal bossing , hypertelorism , eyes with downslanting palpebral fissures , a flat nasal bridge , a long philtrum .
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]