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361 Possible Causes for Hirsutism, Round Face, Umbilical Hernia

  • Mucopolysaccharidosis 2

    The boy’s past history included an umbilical hernia ( Figure 2 ) and chronic otitis media requiring myringotomy tube insertion and adenoidectomy, with conductive hearing loss[consultant360.com] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov]

  • Mucopolysaccharidosis

    The diagnosis is commonly established between 4 and 18 months of age, as infant can appear normal at birth (or presenting with inguinal or umbilical hernias only).[news-medical.net] […] large tongue, prominent forehead, joint stiffness, and short stature; upper airway obstruction, recurrent ear infections, noisy breathing, and persistent nasal discharge; hirsutism[emedicine.medscape.com] Early signs and symptoms of MPS II include ear/sinus infections and umbilical hernia, behavioral disturbance, and skeletal anomalies.[centogene.com]

  • Mucopolysaccharidosis 1

    Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] Other manifestations include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[orpha.net] […] large tongue, prominent forehead, joint stiffness, and short stature; upper airway obstruction, recurrent ear infections, noisy breathing, and persistent nasal discharge; hirsutism[emedicine.medscape.com]

  • Lipodystrophy

    No patient had umbilical hernia.[dmsjournal.biomedcentral.com] Affected individuals may have a round face similar to individuals with Cushing’s syndrome.[rarediseases.org] […] of fat about the thighs and buttocks. total lipodystrophy a recessive condition marked by the virtual absence of subcutaneous adipose tissue, macrosomia, visceromegaly, hypertrichosis[medical-dictionary.thefreedictionary.com]

  • Hypertelorism

    The daughter has bilateral iridochorioretinal colobomas with high hyperopia and a small umbilical hernia.[ncbi.nlm.nih.gov] Cri du chat5p deletionSmall head and jaw; wide eyes; skin tags in front of eyes; round face with full cheeks; hypertelorism; epicanthal folds; down-slanting palpebral fissues[dontforgetthebubbles.com] ; hypertelorism ; rounded palpebral fissures; esotropia ; wide, flattened earlobes; and a downturned mouth [10] .[wikigenes.org]

  • Marshall-Smith Syndrome

    hernia Causes No specific gene has been linked to Marshall-Smith syndrome and other genetic background is still not yet known.[medigest.uk] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net] Individuals may also have heart defects, an increased amount of body hair (hirsutism), and flat feet (pes planus). 0005616 Anteverted nares Nasal tip, upturned Upturned nasal[rarediseases.info.nih.gov]

  • Hypothyroidism

    Late symptoms in newborns (neonatal hypothyroidism): Jaundice (yellowing of the skin, eyes, and mucous membranes) Hoarse cry Poor appetite Umbilical hernia (navel protrudes[stanfordchildrens.org] Increased coagulation time Increased ciclosporin toxicity Hypertrichosis Increased thrombosis risk Transplant rejection Question 7 A patient who has been taken off the beta-blocker[ncbi.nlm.nih.gov] At clinical examination, she presented with bradycardia, pale and round face, pseudohypertrophy of calf muscles and no pitting edema of the limbs.[ncbi.nlm.nih.gov]

  • Familial Partial Lipodystrophy

    hernia Endocrine: Neonatal hypoglycemia; Adrenocortical cytomegaly Neoplasms: Embryonal; 10% Adrenal; Nephroblastoma; Hepatoblastoma; Rhabdomyosarcoma Wilms tumor; Congenital[neuromuscular.wustl.edu] A 34-year-old woman admitted with myalgia and cushingoid appearance was found to have a round face with double chin, neck bump, and loss of fat on extremities.[ncbi.nlm.nih.gov] She also had hirsutism.[ncbi.nlm.nih.gov]

  • BOD Syndrome

    hernia, large premium atrial septal defect and cleft mitral valve, hirsutism, and mild developmental delay. {1:Brautbar et al. (2009)} suggested that even though the patient[bio2rdf.org] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com] face Arrhythmia Rod-cone dystrophy Hypothyroidism Recurrent hypoglycemia Sparse scalp hair Progressive gait ataxia Sensory axonal neuropathy Retinal atrophy Hypogonadotrophic[mendelian.co]

  • Hypertrichotic Osteochondrodysplasia

    Symptoms of Hypertrichotic osteochondrodysplasia Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of connective tissue Umbilical hernia Abnormality[familydiagnosis.com] face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[se-atlas.de] […] syndrome Differential Diagnoses Acquired generalized hypertrichosis Congenital hypertrichosis universalis Dermatologic Manifestations of Hirsutism Dermatologic Manifestations[emedicine.medscape.com]

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