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387 Possible Causes for Macrocephaly, Macroglossia, Round Face

  • Mucopolysaccharidosis 2

    […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] Common signs and symptoms include a large head, full lips, large rounded cheeks, a broad nose, hoarse voice and an enlarged tongue (macroglossia).[symptoma.com]

  • Mucopolysaccharidosis

    The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[ncbi.nlm.nih.gov] However, access to secure the airway and for conventional surgery can be challenging, due to limited neck extension, macroglossia and reduced mouth opening.[ncbi.nlm.nih.gov] Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d.[icd9data.com]

  • Mucopolysaccharidosis 1

    Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.com] Developmental delays, hearing loss and macroglossia contribute to severely reduced language acquisition.[symptoma.com] Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during[icd10data.com]

  • Congenital Muscular Dystrophy

    Severe scoliosis, macrocephaly, and nonambulatory status were common in LAMA2. Increasing age was associated with poor respiratory function in COL6A.[ncbi.nlm.nih.gov] Additional symptoms may occur including overgrowth (hypertrophy) of the muscles of the legs, an abnormally enlarged tongue (macroglossia), weakness and wasting (atrophy) of[rarediseases.org] Macrocephaly may be noted.[symptoma.com]

  • Simpson Dysmorphia Syndrome

    , round face, hypoplastic supraorbital ridge, epicanthus, cleft palate TM Diastrophic dysplasia sulfate transporter DTDST 5q32-q33.1 222600 Diastrophic dysplasia 222600 AR[widesmiles2.org] We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance.[ncbi.nlm.nih.gov] Keywords: Simpson-Golabi-Behmel Syndrome, Anesthetic Management, Macroglossia 1.[file.scirp.org]

  • Trisomy 12p

    Features that often occur in people with chromosome 12p duplication include macrocephaly (unusually large head), abnormal muscle tone, characteristic facial features, developmental[rarediseases.info.nih.gov] – – – – – – – – Hypertelorism borderline – – – – Epicanthus – – – – – – – – – – – – – Dysmorphic ears – – – Short nose – – – – Anteverted nostrils – Long philtrum – – – Macroglossia[molecularcytogenetics.biomedcentral.com] The head may be unusually large (macrocephaly) and has been described as long from front to back (dolichocephaly). There may also be a broad forehead.[rarediseases.org]

  • Neurofibromatosis Type 1

    Neurofibromas may be soft, or firm and round. Lisch nodules can also occur. These are very small brown spots that may appear in the iris of the eye.[medicalnewstoday.com] Abnormal high signal intensity visible on brain MRI, brain tumors, and macrocephaly are common.[neurology.org] […] because of a grossly distorted anatomy. 113 However, successful intubation after inhalation anaesthesia with sevoflurane has been described. 107 In addition, the presence of macroglossia[academic.oup.com]

  • Weaver Syndrome

    , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net] A boy with primordial overgrowth, macrocephaly, and anomalies of the face, nails, feet and skeleton is reported.[ncbi.nlm.nih.gov] Macroglossia and hypothyroidism are seldom mentioned in the literature as clinical findings associated with the syndrome.[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov] Macrocephaly or microcephaly, high arched palate, micrognathia and redundant neck skin folds may be present.[orpha.net] Macrocephaly or microcephaly, a high-arched palate, protruding tongue or micrognathia, and redundant neck skin folds may be present.[ela-asso.com]

  • Hypertrichotic Osteochondrodysplasia

    face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[se-atlas.de] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[orpha.net] Abnormality of head or neck Anteverted nares Coarse facial features Curly eyelashes Epicanthus Large sella turcica Long philtrum Low anterior hairline Low posterior hairline Macrocephaly[familydiagnosis.com]

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