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Scalp defects-postaxial polydactyly syndrome is a very rare genetic disorder which is characterized by congenital defects of the scalp and type A postaxial polydactyly. [1] [2] An additional finding is severe intellectual disability. It is thought to be inherited in an autosomal dominant manner.
Polysyndactyly is a congenital anomaly, combining polydactyly and syndactyly, in which affected individuals have an extra finger or toe that is connected, via fusing or webbing, to an adjacent digit. [ 1 ] [ 2 ]
Pallister–Hall syndrome (PHS) is a rare genetic disorder that affects various body systems. [1] The main features are a non-cancerous mass on the hypothalamus (hypothalamic hamartoma) and extra digits (polydactylism).
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 ...
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 ...
Clinically, McKusick–Kaufman syndrome is characterized by a combination of three features: postaxial polydactyly, heart defects, and genital abnormalities: [citation needed] Vaginal atresia with hydrometrocolpos; Double vagina and/or uterus. Hypospadias, chordee (a downward-curving penis), and undescended testes (cryptorchidism).
Meckel-Gruber syndrome is a rare, lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly (postaxial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios. [1] [2] Meckel–Gruber syndrome is named for Johann Meckel and ...
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]