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

  • Mucopolysaccharidosis 2

    Hearing problems. Swollen and stiff joints. Abdominal hernias. Hepatosplenomegaly.[] 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 ).[] Patients with MPS II typically exhibit systemic manifestations including a short stature, a specific facial appearance, dysostosis multiplex, a thick skin, inguinal hernia[]

  • Mucopolysaccharidosis 1

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

  • 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[] Hearing problems are frequent and hence get regular check-ups done by an ent specialist/pediatrician who will guide you.[] 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.[]

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

  • Noonan Syndrome

    Children suspected of having Noonan syndrome should be screened for heart, vision, and hearing problems.[] After birth, diffuse lymphedema of the body and several dysmorphic features ( Figure 1 ) were identified: frontal bossing, antimongoloid palpebral slant, exophthalmos, left[] They can also present with thick hooded eyelids, wrinkled skin and a high anterior hair line, albeit all aforementioned facial features can be subtle.[]

  • Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

    ) or hearing problems (hearing loss, recurrent otitis media).[] bossing Hypertelorism Long philtrum Thick vermilion border Triangular face Abnormality of limbs ... ...[] […] 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[]

  • 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.).[] bossing, enlarged paranasal sinuses (especially frontal sinuses) and an enlarged sella turcica .[] Nasolacrimal duct obstruction Atypical scarring of skin Auricular pit Microdontia of primary teeth Agenesis of cerebellar vermis Bifid nasal tip White forelock Premature skin[]

  • Lenz-Majewski Syndrome

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

  • 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[] Facial abnormalities (hypertelorism, frontal bossing, thick lips) become apparent in early childhood.[] Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth.[]

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