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66 Possible Causes for Frontal Bossing, Hearing Problem, Thick Facial Skin

  • Achondroplasia

    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] Chronic otitis media can lead to hearing problems. Dental crowding is common. Thoracolumbar kyphosis is very common in infancy.[orpha.net] Abstract Achondroplasia is an autosomal dominant disorder characterized by disproportionately short stature, frontal bossing, rhizomelia, and trident hands.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    Hearing problems. Swollen and stiff joints. Abdominal hernias. Hepatosplenomegaly.[patient.info] Anteroposterior and lateral X-rays of the skull showed an calvarial thickening and depressed bridge of nose with frontal bossing with hypopneumatised mastoid ( Figure 3 ).[omicsonline.org] 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]

  • Mucopolysaccharidosis 1

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[verywell.com] On examination, child had dysmorphic features such as frontal bossing, hypertelorism, saddle nose, low-set ears, macroglossia, short stature, short neck, kyphosis of lumbar[jcor.in] Physical Examination Appearance Short stature with disproportionately short trunk ( dwarfism ) Skin Thickened skin Excessive body hair growth HEENT Coarse or rough facial[wikidoc.org]

  • Hypochondroplasia

    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] Hearing problems are frequent and hence get regular check-ups done by an ent specialist/pediatrician who will guide you.[icliniq.com] bossing, lumbar gibbus, trident position of the fingers, and a narrow chest with a horizontal line of demarcation at the narrowest area of the chest.[ncbi.nlm.nih.gov]

  • Ectodermal Dysplasia

    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] 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] The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis.[ncbi.nlm.nih.gov]

  • Noonan Syndrome

    Children suspected of having Noonan syndrome should be screened for heart, vision, and hearing problems.[merckmanuals.com] After birth, diffuse lymphedema of the body and several dysmorphic features ( Figure 1 ) were identified: frontal bossing, antimongoloid palpebral slant, exophthalmos, left[doi.org] 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]

  • Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

    ) or hearing problems (hearing loss, recurrent otitis media).[flipper.diff.org] bossing Hypertelorism Long philtrum Thick vermilion border Triangular face Abnormality of limbs ... ...[familydiagnosis.com] […] folds of the upper eyelid that partially cover the inner corners of the eyes) and thick or droopy eyelids The facial features of Noonan syndrome may change considerably with[chop.edu]

  • Autosomal Dominant Prognathism

    There are also recurring eye and hearing problems, as in other craniofacial syndromes, due to delayed closure of the cranial sutures (Iieri et al.; Almeida et al.).[scielo.conicyt.cl] bossing, enlarged paranasal sinuses (especially frontal sinuses) and an enlarged sella turcica .[radiopaedia.org] Nasolacrimal duct obstruction Atypical scarring of skin Auricular pit Microdontia of primary teeth Agenesis of cerebellar vermis Bifid nasal tip White forelock Premature skin[mendelian.co]

  • Lenz-Majewski Syndrome

    The mutation of COL2A1 gene leads to abnormal skeletal growth and problems with hearing and vision.[ibemubixexubi.cf] bossing 0002007 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Humeroradial synostosis Fusion of upper and lower arm bones 0003041 Hyperextensibility[rarediseases.info.nih.gov] Lenz-Majewski-Like Syndrome: Mesoectodermal dysplasia with macrocephaly, specific facial features (exophthalmos, broad nasal root, anteverted nostrils, large auricles, thick[accessanesthesiology.mhmedical.com]

  • Coffin-Lowry Syndrome

    Cardiac problems, hearing loss, vision loss, problems with speech Mental retardation, which is often worse in males Episodes of brief collapse without loss of consciousness[medindia.net] Facial abnormalities (hypertelorism, frontal bossing, thick lips) become apparent in early childhood.[orpha.net] Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth.[medicinenet.com]

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