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164 Possible Causes for Polydactyly, Sloping Shoulders

  • Holt Oram Syndrome

    shoulders, and intermediate atrioventricular canal defect (AVCD) with aortic coarctation.[ncbi.nlm.nih.gov] In our case, we observed polydactyly of all the four limbs, clinodactyly, loss of thenar eminence, and ASD.[aeronline.org] […] development of the radial, carpal, and thenar bones Abnormal forearm pronation and supination Triphalangeal or absent thumbs Possible abnormal opposition of thumb Possible sloping[chdbabies.com]

  • Craniofrontonasal Dysplasia

    shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324[rarediseases.info.nih.gov] High anterior hairline Joint hypermobility Low posterior hairline Microcephaly Muscular hypotonia Oral cleft Plagiocephaly Preaxial foot polydactyly Sandal gap Scoliosis[familydiagnosis.com] Kwee ML, Lindhout D (1983) Frontonasal dysplasia, coronal synostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance[link.springer.com]

  • Frontonasal Dysplasia

    shoulder, widely and asymmetrically placed nipple Click here to view Figure 1b: Shoulders were rounded and sloping and could be proximated anteriorly close to the midline[mjdrdypu.org] This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid,[ncbi.nlm.nih.gov] […] superior vermis, hypoplastic cerebellum and brain stem, and possible posterior fossa cyst in this case); short neck, relatively long trunk with short limbs; cryptorchidism; and polydactyly[ncbi.nlm.nih.gov]

  • Syndactyly

    She had dolichocephaly, bilateral blepharoptosis, highly arched eyebrows, and sloping shoulders. Broad, prominent nasal bridge was observed. The philtrum was broad.[tiptiktak.com] A large Jewish Moroccan family presented with apparently autosomal dominant heredity of bilateral thumb polydactyly in hands and feet combined with post-axial polydactyly[ncbi.nlm.nih.gov] Novick, Car***"Polydactyly of the Foot." eMedicin***www.emedicing.com "Polydactyly." Health Library. www.mercksource.com "Polydactyly and Syndactyly."[en.wikibooks.org]

  • Acro-Pectoral Syndrome

    Mildest forms include clinodactyly, limited supination, and sloping shoulders.[emedicine.medscape.com] Heterozygotes have preaxial polydactyly in the hindlimbs, while homozygotes also have tibial hemimelia and preaxial polydactyly in the forelimbs.[doi.org] Dundar and coworkers found that the LMBR1 gene links to pre axial polydactyly.[en.wikipedia.org]

  • Cleidocranial Dysplasia

    shoulders that can be apposed at the midline, short stature, mid-face hypoplasia, multiple supernumerary teeth, and skeletal anomalies.[ncbi.nlm.nih.gov] In addition to a classical CCD phenotype, the other subject had a complex synpolydactyly of the hands and postaxial polydactyly of the feet which have so far never been reported[ncbi.nlm.nih.gov] Neurological examinations revealed sloping shoulders, weakness, and atrophy in the proximal areas of the arms, shoulder girdle muscles, and legs.[ncbi.nlm.nih.gov]

  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia).[orpha.net] Piussan Lenaerts Mathieu syndrome Plica syndrome Plummer-Vinson Syndrome Podder-Tolmie Syndrome POEMS syndrome Pointer Syndrome Poland syndrome polycystic ovary syndrome Polydactyly[rgd.mcw.edu] shoulders ; Hypergonadotropic hypogonadism ; Intellectual disability ; Lipodystrophy ; Mitral regurgitation ; Ptosis ; Retrognathia ; Short clavicles Associated Genes LMNA[mousephenotype.org]

  • Skeletal Dysplasia

    As a result, their shoulders are narrow and sloping, can be brought unusually close together in front of the body, and in some cases can be made to meet in the middle of the[ghr.nlm.nih.gov] )/short-rib polydactyly syndrome type II (Majewski type) AR or digenic ( NEK1/DYNC2H1) Constricted thoracic cage, polydactyly variably present, cleft palate, major organ ([arupconsult.com] polydactyly with skeletal dysplasia usually indicates short rib polydactyly syndrome, chondrodysplasia punctata, or asphyxiating thoracic dysplasia Treatment and prognosis[radiopaedia.org]

  • Pfeiffer-Palm-Teller Syndrome

    shoulders Blue irides Celiac disease Large earlobe Chronic constipation Abnormality of the cerebral vasculature Multiple renal cysts Enuresis Dyslexia Sudden death Vocal[mendelian.co] Polydactyly postaxiale labial slit mediane Polydactyly postaxiale backwardness Polydactyly preaxiale Polydactyly preaxiale colobome backwardness small size Polydactyly (generic[wikipedia.qwika.com] […] with median cleft of upper lip Polydactyly postaxial Polydactyly preaxial type 1 Polydactyly syndrome middle ray duplication Polydactyly visceral anomalies cleft lip palate[bioreference.net]

  • Congenital Deformities of Limbs

    Sloping narrow shoulders, hypoplasia of the radius and radio-ulnar synostosis have been noted in some cases.[oandplibrary.org] The condition is called polydactyly and in many cases the extra digit would be the little finger.[michaelbellemore.com] In people of African descent, this type of polydactyly is usually an isolated defect.[merckmanuals.com]

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