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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 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.
Epilepsy-intellectual disability in females also known as PCDH19 gene-related epilepsy or epileptic encephalopathy, early infantile, 9 (EIEE9), is a rare type of epilepsy that affects predominantly females and is characterized by clusters of brief seizures, which start in infancy or early childhood, and is occasionally accompanied by varying degrees of cognitive impairment.
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]
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 ]
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 .