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    Silver-Russell Syndrome Professional

    Synonyms: Russell-Silver syndrome, Russell-Silver dwarfism, Silver's syndrome Definition Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous condition characterise...

    Bardet-Biedl Syndrome Professional

    It is usually post-axial and may be associated with other limb defects, including brachydactyly and syndactyly for both hands and feet. Hypogonadism and genital anomalies - these are repor...

    Moebius Syndrome Professional

    Most cases are sporadic mutations, but an autosomal dominant transmission has been described (chromosome 13). [ 1 ] Risk factors Misoprostol, ergotamine, and chorionic villus sampling have be...

    Orthopaedic Problems in Childhood Professional

    A check should be made for other deformities. Syndactyly (web toes) - needs no treatment but check for other deformities. Hammer toe - this is extended metatarsophalangeal (MTP) and d...

    Smith-Lemli-Opitz Syndrome Professional

    The malformations include distinctive facial features, cleft palate, cardiac defects, postaxial polydactyly and 2-3 syndactyly of the toes. Visual loss may occur due to cataracts, optic ne...

    Dandy-Walker Syndrome Professional

    MRI evaluation can then be used antenatally to confirm the diagnosis and to gain more detailed information. [ 11 ] Associated abnormalities DWS is frequently associated with other central ...

    Bowen-Armstrong Syndrome Professional

    Absent/dysfunctional tear ducts. Syndactyly . Abnormal structure and function of middle and outer ear. Other possible features of Bowen-Armstrong syndrome and assoc...

    Oesophageal Atresia Professional

    L imb deformities: including radial dysplasia, absent radius , radial-ray deformities, syndactyly, polydactyly, lower-limb tibial deformities. The CHARGE association: C olobom...

    Klippel-Trénaunay Syndrome Professional

    The digits may be affected, with macrodactyly, syndactyly, polydactyly or oligodactyly. An increase in limb girth may be the main feature if soft tissues rather than bones are predominantl...

    Cornelia De Lange Syndrome Professional

    Minor and variable anomalies include clinodactyly (deviation or deflection of the fingers), single palmar crease, proximal placement of the thumb or thumbs and syndactyly (union of two or mor...

    Cri du Chat Syndrome Professional

    Skin tags just in front of the ear. Syndactyly (partial webbing or fusing of fingers or toes). Simian crease (single palmar crease).

    Exomphalos and Gastroschisis Professional

    Deformities include anencephaly, cleft lip and palate , ectopia cordis, atrial septal defect , diaphragmatic hernia, scoliosis, syndactyly and amniotic band. Intestinal atresia, malabsorpti...

    Congenital Gastrointestinal Malformations Professional

    L imb deformities including radial dysplasia, absent radius, radial deformities, syndactyly, polydactyly, lower-limb tibial deformities. A complex syndrome known by the mnemonic '...