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179 Possible Causes for Macrotia

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  • Acromegaly

    Acromegaly is an endocrine disorder characterised by sustained hypersecretion of growth hormone (GH) with concomitant elevation of insulin-like growth factor (IGF)-I, and is associated with malignancy and premature mortality from cardiovascular and respiratory diseases. In particular, there may be an increased risk[…][ncbi.nlm.nih.gov]

  • Turner Syndrome

    Juvenile ankylosing spondylitis (JAS) is a chronic autoimmune disorder which causes considerable morbidity when left untreated; it occurs predominantly in men. We describe an Asian Indian woman who had JAS with phenotypic features of Turner syndrome (TS) and was found to be a mosaic for 45, X/46, X, psu idic (X)[…][ncbi.nlm.nih.gov]

  • Cockayne Syndrome

    Cockayne syndrome is a rare autosomal recessive neurodegenerative disorder. It is considered to be a heterogeneous condition based on complementation in cell fusion studies, with two major forms, namely CS-A and CS-B. CKN1 is the gene responsible for CS-A, whose mutations disrupt the transcription-coupled repair[…][ncbi.nlm.nih.gov]

  • Pernicious Anemia

    Your doctor will diagnose pernicious anemia based on your medical and family histories, a physical exam, and test results. Your doctor will want to find out whether the condition is due to a lack of intrinsic factor or another cause. He or she also will want to find out the severity of the condition, so it can be[…][nhlbi.nih.gov]

  • Fragile X Syndrome

    Skip sharing on social media links People with Fragile X do not all have the same signs and symptoms, but they do have some things in common. Symptoms are often milder in females than in males. Intelligence and learning. Many people with Fragile X have problems with intellectual functioning. These problems can range[…][web.archive.org]

  • Three M Syndrome

    Eur J Hum Genet. 2009 Mar;17(3):395-400. doi: 10.1038/ejhg.2008.200. Epub 2008 Oct 29. Huber C 1 , Delezoide AL , Guimiot F , Baumann C , Malan V , Le Merrer M , Da Silva DB , Bonneau D , Chatelain P , Chu C , Clark R , Cox H , Edery P , Edouard T , Fano V , Gibson K , Gillessen-Kaesbach G , Giovannucci-Uzielli ML ,[…][ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    BACKGROUND: Mucopolysaccharide (MPS) diseases are a heterogeneous group of inherited, metabolic disorders characterized by accumulation of partially degraded glycosaminoglycans (GAG) in multiple organ systems. Due to accumulation in the airway, patients often present with multilevel airway obstruction and[…][ncbi.nlm.nih.gov]

  • Oculorenocerebellar Syndrome

    […] frequent (99-80%) HP:0001266 12 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347 13 mandibular prognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000303 14 macrotia[malacards.org] […] nodules Dysphagia Axillary freckling Brachydactyly Papillary cystadenoma of the epididymis Proteinuria Multiple glomerular cysts Pili canaliculi Camptodactyly of finger Macrotia[mendelian.co]

  • Camptodactyly Syndrome Guadalajara Type 1

    Camptodactyly of finger ; Cuboid-shaped vertebral bodies ; Hallux valgus ; Hypotelorism ; Intrauterine growth retardation ; Labial hypoplasia ; Long philtrum ; Low-set ears ; Macrotia[mousephenotype.org] […] valgus Bunion 0001822 Hypotelorism Abnormally close eyes Closely spaced eyes [ more ] 0000601 Long philtrum 0000343 Low-set ears Low set ears Lowset ears [ more ] 0000369 Macrotia[rarediseases.info.nih.gov]

  • Nivelon-Nivelon-Mabille Syndrome

    Affiliated tissues include bone , eye and brain , and related phenotypes are intellectual disability and macrotia Description from OMIM: 600092 Symptoms via clinical synopsis[malacards.org] […] symptoms related to Chondrodysplasia-pseudohermaphroditism Syndrome Intellectual disability Microcephaly Strabismus Intrauterine growth retardation Severe short stature Macrotia[mendelian.co] 59 32 (show all 27) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249 2 macrotia[malacards.org]

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