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168 Possible Causes for Sloping Shoulders, Syndactyly

  • Craniofrontonasal Dysplasia

    Extracranial abnormalities such as brittle nails with prominent longitudinal grooves or syndactyly of fingers and toes were observed in individual patients.[ncbi.nlm.nih.gov] 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] Affected females had hypertelorism, broad nasal root, frontal bossing, craniosynostosis, syndactyly of toes and fingers, and vertical grooving of nails.[ncbi.nlm.nih.gov]

  • Syndactyly

    This study reports the first frameshift mutation in the BHLHA9 causing mesoaxial synostotic syndactyly and phalangeal reduction.[ncbi.nlm.nih.gov] She had dolichocephaly, bilateral blepharoptosis, highly arched eyebrows, and sloping shoulders. Broad, prominent nasal bridge was observed. The philtrum was broad.[tiptiktak.com] synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX” Julius Matthias Weinrich & Peter Bannas Skeletal Radiology (2018) Mesoaxial synostotic syndactyly[doi.org]

  • Microphthalmia Type Lenz

    Hand findings include duplicated and/or proximally placed thumbs, cutaneous syndactyly, clinodactyly, and camptodactyly. Skeletal.[ncbi.nlm.nih.gov] Duplicated thumbs, syndactyly, clinodactyly, camptodactyly, and microcephaly are common, as are narrow/sloping shoulders, underdeveloped clavicles, kyphoscoliosis, exaggerated[ncbi.nlm.nih.gov] Duplicated thumbs, syndactyly, clinodactyly, camptodactyly, and microcephaly are common, as are narrow/sloping shoulders, underdeveloped clavicles, kyphoscoliosis, exaggerated[ncbi.nlm.nih.gov]

  • Acro-Pectoral Syndrome

    Haas type syndactyly is characterised by skin syndactyly of all fingers, variable skin syndactyly of the toes, and variable polydactyly, and we have found that skin syndactyly[jmg.bmj.com] Mildest forms include clinodactyly, limited supination, and sloping shoulders.[emedicine.medscape.com] […] information on rare diseases and orphan drugs.Orpha Number: 85203Disease definitionAcro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly[malacards.org]

  • Holt Oram Syndrome

    The thumb is frequently unclassifiable by the Blauth classification and has first-web syndactyly.[ncbi.nlm.nih.gov] shoulders, and intermediate atrioventricular canal defect (AVCD) with aortic coarctation.[ncbi.nlm.nih.gov] […] 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]

  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    Anticholinergic Syndrome antiphospholipid syndrome Antisynthetase Syndrome Aortic Arch Anomaly with Peculiar Facies and Mental Retardation Aortic Arch Syndromes Aphalangia Syndactyly[rgd.mcw.edu] shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia).[orpha.net] shoulders ; Hypergonadotropic hypogonadism ; Intellectual disability ; Lipodystrophy ; Mitral regurgitation ; Ptosis ; Retrognathia ; Short clavicles Associated Genes LMNA[mousephenotype.org]

  • Proximal Symphalangism

    Palmar view of hand with syndactyly. Level of syndactyly, just proximal to proximal interphalangeal (PIP) joint, can be clearly seen on this view.[emedicine.medscape.com] She had dolichocephaly, bilateral blepharoptosis, highly arched eyebrows, and sloping shoulders. Broad, prominent nasal bridge was observed. The philtrum was broad.[tiptiktak.com] [ more ] 0010194 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Distal symphalangism of hands Fused outermost bones of hand 0001204 Finger syndactyly[rarediseases.info.nih.gov]

  • Distal Symphalangism

    Syndactyly (disorder) Syndactyly of the thumb Syndactyly of the thumb (disorder) All content of the ICD-10 CM Search is based on the classifications and codes of the Centers[averbis.com] shoulder/hypermobile shoulders Sclerotic/hyperostotic facial bones Hypotonia Thin lips Pectus excavatum (funnel chest) Other skull abnormality Movement disorder - dystonia[head-face-med.biomedcentral.com] Palmar view of hand with syndactyly. Level of syndactyly, just proximal to proximal interphalangeal (PIP) joint, can be clearly seen on this view.[emedicine.medscape.com]

  • Acrootoocular Syndrome

    Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[orpha.net] shoulders, and nipple anomalies Typical CHARGE syndrome 4 Major criteria or 3 Major 3 Minor Probable/possible CHARGE syndrome One or two major several minor features The[entokey.com] 0001518 29 growth hormone deficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000824 30 pseudopapilledema 60 33 frequent (33%) Frequent (79-30%) HP:0000538 31 cutaneous syndactyly[malacards.org]

  • Congenital Deformities of Limbs

    Simple syndactyly involves fusion of only the soft tissues of fingers whereas complex syndactyly involves fusion of both soft tissues and bones of the fingers.[michaelbellemore.com] Sloping narrow shoulders, hypoplasia of the radius and radio-ulnar synostosis have been noted in some cases.[oandplibrary.org] synostotic syndactyly with phalangeal reduction Mesomelia-synostoses syndrome Mesomelic and rhizo-mesomelic dysplasia Mesomelic dwarfism, Reinhardt-Pfeiffer type Mesomelic[se-atlas.de]

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