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The classification of ulnar polydactyly exists of either two or three types. The two-stage classification, according to Temtamy and McKusick, involves type A and B. In type A there is an extra little finger at the metacarpophalangeal joint, or more proximal including the carpometacarpal joint.
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 ]
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.
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).
The main characteristics of the syndrome are extra fingers and/or toes (polydactyly), with the skin between some fingers or toes potentially fused or "webbed" (cutaneous syndactyly), and a benign mass or lesion in the brain called a hypothalamic hamartoma. [5]
Postaxial polydactyly; Liver disease; Retinitis pigmentosa; Intellectual disability; A case with polycystic ovary syndrome, multiple subcutaneous cysts, renal function impairment, Caroli disease and liver cirrhosis due to ciliopathy has been described. [9] Phenotypes sometimes associated with ciliopathies can include: [8] Anencephaly; Breathing ...
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 ...