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79 Possible Causes for Hearing Problem, Macrocephaly, Thick Facial Skin

  • Mucopolysaccharidosis 2

    Hearing problems. Swollen and stiff joints. Abdominal hernias. Hepatosplenomegaly.[] Patients with MPS II typically exhibit systemic manifestations including a short stature, a specific facial appearance, dysostosis multiplex, a thick skin, inguinal hernia[] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[]

  • Achondroplasia

    Chronic otitis media can lead to hearing problems. Dental crowding is common. Thoracolumbar kyphosis is very common in infancy.[] 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[] The diagnosis of achondroplasia is based on typical clinical and radiological features including short stature, macrocephaly with frontal bossing, midface hypoplasia and rhizomelic[]

  • Mucopolysaccharidosis 1

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[] Physical Examination Appearance Short stature with disproportionately short trunk ( dwarfism ) Skin Thickened skin Excessive body hair growth HEENT Coarse or rough facial[] Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[]

  • Hypochondroplasia

    Hearing problems are frequent and hence get regular check-ups done by an ent specialist/pediatrician who will guide you.[] 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[] Although similar in phenotype to the patients without the mutation, they showed in addition relative macrocephaly.[]

  • Legius Syndrome

    Patients develop hearing problems, ringing in the ears ( tinnitus ), and dizziness. By the age of 30, nearly all patients with NF2 have bilateral vestibular schwannoma.[] Some children with NF1 have distinctive appearance that may include slight generalized increase in pigmentation, facial features such as widely spaced eyes and thick lips,[] Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly[]

  • Noonan Syndrome

    Children suspected of having Noonan syndrome should be screened for heart, vision, and hearing problems.[] They can also present with thick hooded eyelids, wrinkled skin and a high anterior hair line, albeit all aforementioned facial features can be subtle.[] The majority of perinatal findings in NS, CS, and CFCS are shared: polyhydramnios; prematurity; lymphatic dysplasia; macrosomia; relative macrocephaly; respiratory distress[]

  • Costello Syndrome

    As for every individual with developmental delay, an eye and hearing evaluation is indicated, and medical problems are treated as necessary.[] Major Features Dysphagia / Feeding difficulty / Gastrostomy tube (g-tube) (95%) Postnatal short stature (97%) Characteristic facial features (98%) Thick lips (95%) Loose skin[] The most common prenatal findings in the literature and in this cohort were polyhydramnios and fetal overgrowth with relative macrocephaly.[]

  • Wiedemann-Rautenstrauch Syndrome

    Poor feeding [ more ] 0011968 Fever 0001945 Global developmental delay 0001263 Growth hormone deficiency 0000824 Hearing abnormality Abnormal hearing 0000364 Hepatic steatosis[] WRS patients are characterized by premature aging present at birth including pseudohydrocephalus, cranio-facial disproportion, reduced subcutaneous fat, thin skin, rigid and[] […] search Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly[]

  • 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.[] […] features with thick lips (6) Loose skin (7) HRAS mutations 4.[] Additional clinical manifestations reported commonly include intertriginous freckling, lipomas, macrocephaly, and learning disabilities / ADHD / developmental delays.[]

  • Lenz-Majewski Syndrome

    The mutation of COL2A1 gene leads to abnormal skeletal growth and problems with hearing and vision.[] Lenz-Majewski-Like Syndrome: Mesoectodermal dysplasia with macrocephaly, specific facial features (exophthalmos, broad nasal root, anteverted nostrils, large auricles, thick[] Affiliated tissues include bone , skin and tongue , and related phenotypes are macrocephaly and hypertelorism OMIM : 57 Lenz-Majewski hyperostotic dwarfism is a rare condition[]

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