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62 Possible Causes for Dysmorphic Face, 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]

  • Achondroplasia

    Chronic otitis media can lead to hearing problems. Dental crowding is common. Thoracolumbar kyphosis is very common in infancy.[orpha.net] 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] Treatment of ear infections and serous otitis media, along with assessment of any hearing problems is needed. Speech therapy can be offered if concerns arise.[orpha.net]

  • 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

    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] Children suspected of having Noonan syndrome should be screened for heart, vision, and hearing problems.[merckmanuals.com] Typically, older adults have prominent nasolabial folds, a high anterior hair line, thick hooded eyelids and wrinkled skin [ 1, 4 ].[ojrd.biomedcentral.com]

  • Mucopolysaccharidosis 1H

    […] 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] By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[verywell.com] Children with the disease have slower than normal growth and problems hearing, learning, and moving.[bethematch.org]

  • Congenital Hypothyroidism

    problems.[ncbi.nlm.nih.gov] The symptoms of congenital hypothyroidism may include the following: Puffy face Coarse facial features Dull look Thick protruding tongue Poor feeding Choking episodes Constipation[health.cvs.com] Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects[ncbi.nlm.nih.gov]

  • Growth Hormone Deficiency

    Hear their stories Do not use Norditropin if: you have a critical illness caused by certain types of heart or stomach surgery, trauma or breathing (respiratory) problems;[norditropin.com] However, a nice side benefit is that growth hormone also increases the thickness of the skin.[drmarinajohnson.com] problems Everyone is different: Some children may have many of these features, while others have just a few.[norditropin.com]

  • Mucopolysaccharidosis 3

    Some children have seizures others have visual and hearing problems.[jonahsjustbegun.org] Prominent foreheads, large head circumferences, Coarse thick hair, bushy eyebrows, Thick skin, Full lips, Low thick ears, Low nasal bridge, Full round bellies.[phoenixnestbiotech.com] […] and hearing loss Walking problems The health care provider will perform a physical exam.[medlineplus.gov]

  • 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] […] features (e.g., arched eyebrows, thick eyelashes, etc.), skeletal abnormalities, and ridges on the skin.[hcpro.com] It is characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatoglyphic patterns.[ncbi.nlm.nih.gov]

  • Wiedemann-Rautenstrauch Syndrome

    WRS patients are characterized by premature aging present at birth including pseudohydrocephalus, cranio-facial disproportion, reduced subcutaneous fat, thin skin, rigid and[wwww.unboundmedicine.com] Poor feeding [ more ] 0011968 Fever 0001945 Global developmental delay 0001263 Growth hormone deficiency 0000824 Hearing abnormality Abnormal hearing 0000364 Hepatic steatosis[rarediseases.info.nih.gov] (triangular aged face, prominent eyes and scalp veins).[ncbi.nlm.nih.gov]