Create issue ticket

586 Possible Causes for Bilateral Clinodactyly, Sloping Shoulders, Urine Hyaluronic Acid Increased

  • Ruijs Aalfs Syndrome

    In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus[ncbi.nlm.nih.gov] 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]

  • Craniofrontonasal Dysplasia

    Great toes were broad, and there was partial syndactyly of second, third and fourth toes bilaterally. Clinodactyly of both the fifth toe was obvious [Figure 1c].[mjdrdypu.org] 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] Axillary pterygia Bipartite clavicle Brachycephaly Brachydactyly Broad hallux Camptodactyly of finger Clinodactyly of the 5th finger Craniosynostosis Down-sloping shoulders[familydiagnosis.com]

    Missing: Urine Hyaluronic Acid Increased
  • Cleidocranial Dysplasia

    X-ray left wrist AP view revealed normal bone age commensurate with her chronological age and confirmed bilateral clinodactyly, (Fig. 2).[omjournal.org] shoulders that can be apposed at the midline, short stature, mid-face hypoplasia, multiple supernumerary teeth, and skeletal anomalies.[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]

    Missing: Urine Hyaluronic Acid Increased
  • Holt Oram Syndrome

    Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical.[ijms.sums.ac.ir] shoulders, and intermediate atrioventricular canal defect (AVCD) with aortic coarctation.[ncbi.nlm.nih.gov] Although bilateral, left side is often affected more significantly.[heartviews.org]

    Missing: Urine Hyaluronic Acid Increased
  • Frontonasal Dysplasia

    Great toes were broad, and there was partial syndactyly of second, third and fourth toes bilaterally. Clinodactyly of both the fifth toe was obvious [Figure 1c].[mjdrdypu.org] shoulders, umbilical hernia 4021 r,l a ACC Mild (Delta phalanx digit one right hand) lf(2,3) Left eye only r,l Mild pectus excavatum, duplication of distal phalanx r thumb[doi.org] Rounded and sloping shoulders, often rather narrow, were observed in 16/18.[nature.com]

    Missing: Urine Hyaluronic Acid Increased
  • Hypertelorism

    In addition, the son has hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of fingers bilaterally, a small tissue mass on the tip of his nose, and radiographic[ncbi.nlm.nih.gov] shoulder girdle deformity, and longitudinal ridging of nails in association with various truncal and extremity anomalies.[ncbi.nlm.nih.gov] […] third finger clinodactyly.[ncbi.nlm.nih.gov]

    Missing: Urine Hyaluronic Acid Increased
  • Hamamy Syndrome

    […] striatal necrosis Familial isolated clinodactyly of fingers Familial lambdoid synostosis Familial osteochondritis dissecans Familial osteodysplasia, Anderson type Familial[se-atlas.de] shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Frontal bossing 0002007 High, narrow palate Narrow, high-arched roof of mouth Narrow[rarediseases.info.nih.gov] shoulders pterygium colli Skeletal Skull: craniosynostosis (in some patients) Head And Neck Eyes: laterally sparse eyebrows severe hypertelorism myopia, progressive severe[malacards.org]

    Missing: Urine Hyaluronic Acid Increased
  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    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] […] in two sisters with an overlapping clinical phenotype (ovarian failure and progressive dilated cardiomyopathy) but with additional findings that included a narrow chest, sloping[orpha.net]

    Missing: Bilateral Clinodactyly Urine Hyaluronic Acid Increased
  • Syndactyly

    Three had bilateral clinodactyly of the index fingers and one had bilateral clinodactyly of the second toe.[journals.plos.org] She had dolichocephaly, bilateral blepharoptosis, highly arched eyebrows, and sloping shoulders. Broad, prominent nasal bridge was observed. The philtrum was broad.[tiptiktak.com] Fifteen affected individuals had bilateral fifth finger clinodactyly.[journals.plos.org]

    Missing: Urine Hyaluronic Acid Increased
  • 3M Syndrome Type 1

    They all showed numerous dysmorphisms, such as triangular face with prominent forehead, large eyes, depressed nasal bridge, thin upper lip, short neck, and bilateral clinodactyly[cags.org.ae] Other skeletal abnormalities that often occur in this disorder include a short, broad neck and chest; prominent shoulder blades; and shoulders that slope less than usual ([ghr.nlm.nih.gov] Figure 1: Bilateral short incurved 5th finger clinodactyly and unilateral hand hypoplasia Case Presentation A five years old girl admitted to hospital with the complaint of[omicsonline.org]

    Missing: Urine Hyaluronic Acid Increased

Similar symptoms