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85 Possible Causes for Congenital Heart Disease, Hearing Problem, Thick Facial Skin

  • Mucopolysaccharidosis 2

    Hearing problems. Swollen and stiff joints. Abdominal hernias. Hepatosplenomegaly.[patient.info] Patients with MPS II typically exhibit systemic manifestations including a short stature, a specific facial appearance, dysostosis multiplex, a thick skin, inguinal hernia[journals.plos.org] They also had characteristic features of Hunter syndrome such as stunted growth, coarse facial features (large forehead, thick neck, tongue and lips, bushy eyebrows, and flattened[mjdrdypu.org]

  • Mucopolysaccharidosis 1

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[verywell.com] Physical Examination Appearance Short stature with disproportionately short trunk ( dwarfism ) Skin Thickened skin Excessive body hair growth HEENT Coarse or rough facial[wikidoc.org] The onset of symptoms usually occurs in early childhood, causing problems of otitis media, hearing loss and airway obstruction in the ENT area.[elsevier.es]

  • Noonan Syndrome

    Children suspected of having Noonan syndrome should be screened for heart, vision, and hearing problems.[merckmanuals.com] The challenges faced during anesthetic management of patients with NS could be due to congenital heart diseases, hemostatic disorders, and airway anomalies.[ncbi.nlm.nih.gov] They can also present with thick hooded eyelids, wrinkled skin and a high anterior hair line, albeit all aforementioned facial features can be subtle.[news-medical.net]

  • Microtia

    problems.[ncbi.nlm.nih.gov] Colorado Fetal Care Center Colorectal and Urogenital Care Heart Complex Congenital Heart Disease & Development Clinic Orthopedics Concussion Program Surgery Craniofacial[childrenscolorado.org] The Surgery: Skin Graft A very thin skin graft is generally harvested from the thigh or lower abdomen. This graft is ten 1,000’s of an inch in thickness.[earsurgery.org]

  • Kabuki Syndrome

    […] frequent infections hearing problems or hearing loss congenital heart defects, including coarctation of the aorta, ventricular septal defect and atrial septal defect endocrine[childrenshospital.org] As congenital heart diseases are often present, cardiac ultrasonography is a useful study.[symptoma.com] […] features (e.g., arched eyebrows, thick eyelashes, etc.), skeletal abnormalities, and ridges on the skin.[hcpro.com]

  • Mucopolysaccharidosis 1H

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[verywell.com] […] hairy skin all over the body, a tuft of hair in the parietal region, coarse facial features and a prominent forehead with a large tongue, hepatosplenomegaly and skeletal[dx.doi.org] Children with the disease have slower than normal growth and problems hearing, learning, and moving.[bethematch.org]

  • Achondroplasia

    Chronic otitis media can lead to hearing problems. Dental crowding is common. Thoracolumbar kyphosis is very common in infancy.[orpha.net] heart disease Cerebrovascular disease, aortic insufficiency Clinically significant atrial or ventricular arrhythmias Current treatment with antihypertensive medications,[clinicaltrials.gov] This rare condition causes premature joining of the bones of the skull (craniosynostosis), leading to a misshapen head and distinctive facial features, and a skin abnormality[ghr.nlm.nih.gov]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Some affected individuals have vision or hearing problems. Affected infants may have feeding problems, which typically get better by age 1 or 2 years.[icdlist.com] Diagnosis and Management of Adult Congenital Heart Disease, by Drs.[books.google.com] […] features with thick lips (6) Loose skin (7) HRAS mutations 4.[circ.ahajournals.org]

  • Cranio-Osteo-Arthropathy

    (progressive) deafness Other ocular problems Strabismus Bulging eyes (exophthalmos) Loss of binocular vision Hypertelorism Seizures Mental retardation Hearing and vision[healthh.com] We report two unrelated patients with features of cranio-osteoarthropathy, both of whom also had a history of congenital heart disease.[ncbi.nlm.nih.gov] skin or pachyderma which is caused by dysregulation of mesenchymal cells. [26] Characteristic cutaneous manifestations include pachydermia (ie, thickening of facial skin[emedicine.medscape.com]

  • Sinus Bradycardia

    Sinus bradycardia can happen with or without any other heart rhythm problems.[cedars-sinai.org] Congenital heart disease could also be excluded.[ncbi.nlm.nih.gov] Thick skin with an oily texture, upper thoracic lordosis with compensatory lumbar hyperlordosis, prominence of the lower part of the sternum, and big hands and feet were also[elsevier.es]

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