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330 Possible Causes for Macrocephaly, recurrent upper respiratory infections, Round Face

Did you mean: Macrocephaly, recurrent, upper respiratory infections, Round Face

  • Mucopolysaccharidosis 2

    Recurrent upper respiratory infections, a chronic runny nose, hearing impairment, liver and spleen enlargement, inguinal and abdominal hernias, joint stiffness and multiplex[rarediseases.org] […] 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]

  • Mucopolysaccharidosis

    Both siblings displayed reduced frequencies of upper respiratory infections and apnea indices.[ncbi.nlm.nih.gov] 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] Respiratory complications could occur and upper respiratory tract infections and sinopulmonary disease are common.[centogene.com]

  • Mucopolysaccharidosis 1

    MPS I-H causes a spinal 'gibbus' deformity, persistent nasal discharge, middle ear effusions and frequent upper respiratory infection.[patient.info] Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.com] The airway may become narrow in some people with MPS I, causing frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea).[ghr.nlm.nih.gov]

  • Kniest Dysplasia

    There have been recurrent upper and lower respiratory infections and persistent mild stridor.[jmg.bmj.com] face Circular face Round facial appearance Round facial shape [ more ] 0000311 5%-29% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [[rarediseases.info.nih.gov] The patient displayed macrocephaly with increased size of the neurocranium in all three dimensions.[ncbi.nlm.nih.gov]

  • Sotos Syndrome

    Recurrent upper respiratory infections and otitis media are frequent, leading to some degree of conductive hearing loss.[ncbi.nlm.nih.gov] Infants have a round face with prominent forehead and small chin.[encyclopedia.com] Of 261 children with global developmental delay, 18 (7%) had documented macrocephaly.[ncbi.nlm.nih.gov]

  • Pseudopseudohypoparathyroidism

    Immediate consequences: - recurrent respiratory infections (favored by excessive flexibility and muscular hypotonia chest -lung rickety); - poor psychomotor development -[slideplayer.com] She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[doi.org] Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion. Am J Med Genet A. 2016 [ PubMed ] [ Google Scholar ] 14.[ncbi.nlm.nih.gov]

  • Weaver Syndrome

    respiratory infections Premature tooth eruption, soft enamel Rosy coloring over the cheeks and nose Disproportionately large hands and feet Persistent feeding difficulties[sotossyndrome.co.uk] , 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]

  • Prader-Willi Syndrome

    The patient was admitted to our hospital due to proteinuria and microscopic hematuria after an upper respiratory infection.[ncbi.nlm.nih.gov] (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[icd9data.com] The presence of macrocephaly, observed in other cases of SNORD116 deletions as well, is uncommon for the classic phenotype of the syndrome.[ncbi.nlm.nih.gov]

  • Achondroplasia

    Only one had referred recurrent respiratory infections.[ncbi.nlm.nih.gov] face discussion; 3) edit the list and rate it in a second round.[ncbi.nlm.nih.gov] The diagnosis of achondroplasia is based on typical clinical and radiological features including short stature, macrocephaly with frontal bossing, midface hypoplasia and rhizomelic[ncbi.nlm.nih.gov]

  • X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome

    The primary clinical features associated with this microduplication are infantile hypotonia, recurrent respiratory infection, severe mental retardation, absence of speech[pediatrics.aappublications.org] face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[se-atlas.de] Conditions starting from Ma to Me ' Ma to Me ' returned 439 records Mac Dermot Winter syndrome Macrocephaly Macrocephaly, alopecia, cutis laxa, and scoliosis Macrocephaly,[diseaseinfosearch.org]

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