Create issue ticket

167 Possible Causes for Multiple Congenital Anomalies, Sloping Shoulders

  • 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] If RUNX2 testing is not diagnostic and if strong suspicion persists in an individual with features of CCD spectrum disorder who also has multiple congenital anomalies and[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]

  • Trisomy 20

    Recurring features include; spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, and significant[ncbi.nlm.nih.gov] We report data on a child with multiple congenital anomalies born after a diagnosis of true trisomy 20 mosaicism in 65% of amniotic fluid cells.[ncbi.nlm.nih.gov] shoulders, and significant learning disabilities despite normal intelligence. [2] Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops[rarediseases.info.nih.gov]

  • CHARGE Syndrome

    Although certain clinical issues (scapular winging, sloping shoulder, Sprengel's deformity, kyphosis and scoliosis) which could be related to abnormalities in musculoskeletal[ncbi.nlm.nih.gov] Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular[ncbi.nlm.nih.gov] Feature Includes Frequency Chronic Ear Problems Lots of infections, fluid in the ears, PE tubes until teens 85% Sloping Shoulders Underdeveloped shoulder muscles, small or[chargesyndrome.org]

  • Williams-Beuren Syndrome

    They can have a short stature, sloping shoulders, long neck and limited movement in their joints. What medical issues are associated with Williams Syndrome?[aapos.org] congenital anomalies/dysmorphic syndrome-intellectual disability, malformation syndrome with short stature, genetic hypertension, partial deletion of the long arm of chromosome[commons.wikimedia.org] shoulders, a long neck, and are short of stature.[disabled-world.com]

  • XXXXY Syndrome

    Physical examination revealed: hypotonia, broad forehead and nasal bridge, hypertelorism, epicanthic folds, rotated left ear, lack of teeth, short neck, sloping shoulders,[endocrine-abstracts.org] A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia[ncbi.nlm.nih.gov] We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate.[ncbi.nlm.nih.gov]

  • Craniosynostosis

    shoulders, asymmetric nipples, bifid digits and agenesis of the corpus callosum. 30 The identification of causative mutations in EFNB1, which confer loss of function and[nature.com] Noonan syndrome (NS) is a multiple congenital anomaly syndrome caused by germline mutations in genes coding for components of the Ras-mitogen-activated protein kinase (RAS-MAPK[ncbi.nlm.nih.gov] Maternal pesticide exposure from multiple sources and selected congenital anomalies.[ncbi.nlm.nih.gov]

  • 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] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com] Axillary pterygia Bipartite clavicle Brachycephaly Brachydactyly Broad hallux Camptodactyly of finger Clinodactyly of the 5th finger Craniosynostosis Down-sloping shoulders[familydiagnosis.com]

  • Multiple Congenital Anomalies

    shoulders, nipple anomalies).[leader.pubs.asha.org] Desmosterolosis is a rare multiple congenital anomaly syndrome caused by a defect in the enzyme 3-beta-hydroxysterol delta-24-reductase (DHCR24) in the cholesterol biosynthesis[ncbi.nlm.nih.gov] The value of aCGH screening as a first-tier test in children with multiple congenital anomalies has been studied and consensus adopted.[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] […] chemical sensitivity multiple congenital anomalies-hypotonia-seizures syndrome Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability Multiple Hamartoma[rgd.mcw.edu] shoulders ; Hypergonadotropic hypogonadism ; Intellectual disability ; Lipodystrophy ; Mitral regurgitation ; Ptosis ; Retrognathia ; Short clavicles Associated Genes LMNA[mousephenotype.org]

  • Leri Pleonosteosis

    shoulders; flat feet.[dentisty.org] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com] […] dysgenesis and hydroureters; dental anomalies; hypospadias and bilateral cryptorchidism; severe speech impairment; shortness of stature; long, cylindrical, and thin thorax ; sloping[dentisty.org]

Further symptoms

Similar symptoms