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The syndrome was originally described by American and Canadian geneticists Philip Pallister and Judith Hall in their research of newborn deaths due to pituitary failure. [3] Subsequent discovery of living children and adults expanded the understanding of the syndrome and established the transmission pattern within families.
Postaxial polydactyly. This is the most common situation, in which the extra digit is on the ulnar side of the hand, thus the side of the little finger. This can also be called postaxial polydactyly. It can manifest itself very subtly, for instance only as a nubbin on the ulnar side of the little finger, or very distinctly, as a fully developed ...
Polydactyly-myopia syndrome, also known as Czeizel-Brooser syndrome, is a very rare genetic disorder which is characterized by post-axial polydactyly on all 4 limbs and progressive myopia. [1] Additional symptoms include bilateral congenital inguinal hernia and undescended testes. [ 2 ]
Treatment is generally aimed at normalizing both function and appearance of the affected extremity [3] and, in the case of polysyndactyly of the foot, shoe fit and comfort. [22] The underlying cause of polysyndactyly determines the overall quality of life for individuals diagnosed with this condition.
Acrocallosal syndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. [3] The syndrome was first described by Albert Schinzel in 1979. [4]
Bardet–Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The most common clinical features are rod–cone dystrophy, with childhood-onset night-blindness followed by increasing visual loss; postaxial polydactyly; truncal obesity that manifests during infancy and remains problematic ...
It is a feature of various rare disorders such as Apert's syndrome, and can occur alongside other isolated congenital hand/foot malformations including syndactyly, cleft hand, metatarsal synostosis, and polydactyly. [11] A syndromic form of syndactyly known as syndactyly type V has metacarpal and metatarsal synostosis as symptoms. [12]
Recent findings in genetic research have suggested that a large number phenotypically varying rare genetic disorders may share a common genotypical root cause.As Meckel–Gruber syndrome is a ciliopathy, it may be related to other known ciliopathies, such as primary ciliary dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, and some ...