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63 Possible Causes for Hearing Problem, Short Extremities, Thick Facial Skin

  • 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] […] of short extremities, a large head, and trident-shaped hands. • Achondroplasia is an autosomal dominant disorder caused by mutations in fibroblast growth factor receptor[medlink.com]

  • 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] Patients present with short stature, flat nasal bridge, and joint findings. Urine GAGs are normal in MPS IX.[neurology.testcatalog.org]

  • 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]

  • Hypochondroplasia

    Hearing problems are frequent and hence get regular check-ups done by an ent specialist/pediatrician who will guide you.[icliniq.com] 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] Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar[ncbi.nlm.nih.gov]

  • 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]

  • Cerebral Palsy

    Difficulty swallowing Drooling Some people with CP suffer from other medical disorders as well, including: Seizures Intellectual disabilities Learning disabilities Vision or hearing[childrens.uvahealth.com] Side effects from medications include: xerostomia, thick mucoid secretions, dehydration, urinary retention, urinary tract infections, constipation, facial flushing, skin rash[doi.org] Short-term maturational effects on the lungs of ventilated extremely premature infants are, however, accompanied by a greater susceptibility of the lung, eventually contributing[doi.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] […] features (e.g., arched eyebrows, thick eyelashes, etc.), skeletal abnormalities, and ridges on the skin.[hcpro.com] Synonyms of KBG Syndrome Short Stature, Facial/Skeletal Anomalies-Retardation-Macrodontia General Discussion KBG syndrome is a rare genetic disorder characterized by short[rarediseases.org]

  • Geleophysic Dysplasia

    Some may have hearing problems, due to the chronic ear infections that could contribute both developmental and speech delays Geleophysic dysplasia results from mutations in[angelfire.com] We report on two boys with facial anomalies, small hands and feet, joint contractures, thick skin, unusual tiptoe gait and lysosome-like inclusions in the hepatocytes, compatible[ncbi.nlm.nih.gov] The disorder presents as extreme short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness, toe walking, skin thickening, progressive cardiac[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] Here, we report a 14-year-old patient with extremities dystonia and short stature. Treatment with levodopa relieved his symptoms and resulted in a height increase.[ncbi.nlm.nih.gov]

  • Ectodermal Dysplasia

    However surgery is frequently unable to improve hearing if the hearing loss is sensorineural (the hearing problem is in the inner ear, auditory nerve or auditory centers of[ucdmc.ucdavis.edu] Some people with hypohidrotic ectodermal dysplasia have distinctive facial features, including a prominent forehead , thick lips, and a flattened bridge of the nose .[ghr.nlm.nih.gov] Upper extremities showing ectrodactyly Figure 3.[parjournal.net]