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2,114 Possible Causes for Sloping Shoulders, Syndactyly, Urine Hyaluronic Acid Increased

  • Craniofrontonasal Dysplasia

    Hand polydactyly Hemihypotrophy of lower limb Preaxial foot polydactyly Sandal gap Toe syndactyly Abnormality of prenatal development or birth Thickened nuchal skin fold[familydiagnosis.com] 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]

    Missing: Urine Hyaluronic Acid Increased
  • Ruijs Aalfs Syndrome

    Syndrome Boudhina Yedes Khiari syndrome Bowen Syndrome Bowen-Conradi syndrome Boylan Dew Greco Syndrome brachial plexus neuritis Brachioskeletogenital Syndrome brachydactyly-syndactyly[rgd.mcw.edu] Down-sloping shoulders MedGen UID: 346461 • Concept ID: C1856872 • Finding Low set, steeply sloping shoulders.[ncbi.nlm.nih.gov] […] to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping[familydiagnosis.com]

  • 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]

    Missing: Urine Hyaluronic Acid Increased
  • 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]

    Missing: Urine Hyaluronic Acid Increased
  • 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]

    Missing: Urine Hyaluronic Acid Increased
  • 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[doi.org] 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]

    Missing: Urine Hyaluronic Acid Increased
  • 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]

    Missing: Urine Hyaluronic Acid Increased
  • 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] synostotic syndactyly with phalangeal reduction Mesomelia-synostoses syndrome Mesomelic and rhizo-mesomelic dysplasia Mesomelic dwarfism, Reinhardt-Pfeiffer type Mesomelic[se-atlas.de]

    Missing: Urine Hyaluronic Acid Increased
  • 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] SOURCES: ORPHANET OMIM MONDO MESH GARD More info about BASAN SYNDROME Low match SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION; MSSD Mesoaxial synostotic syndactyly[mendelian.co]

    Missing: Urine Hyaluronic Acid Increased
  • Frontonasal Dysplasia

    […] abnormalities characterised with this disorder were ocular hypertelorism, broad nose tip with median notch, median facial cleft, bifid anterior skull, low set hairline, Poland's syndactyly[ncbi.nlm.nih.gov] 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] Patients also had cleft lip–cleft palate (10 percent), ear deformities (19 percent), strabismus or esotropia (81 percent), dry frizzy hair (100 percent), syndactyly (14 percent[doi.org]

    Missing: Urine Hyaluronic Acid Increased

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