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623 Possible Causes for Macrocephaly, Recurrent Infection, 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] Most patients with MPS 2 have progressive hearing loss and recurrent infections of the middle ear.[symptoma.com] 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

    The early clinical characteristics were developmental delay, joint stiffness, coarse facies, recurrent respiratory tract infections, abdominal distention and hernia.[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] […] ear infections, noisy breathing, and persistent nasal discharge; hirsutism, hearing loss, hydrocephalus, and mental retardation MPS I-H/S - Milder features; normal intelligence[emedicine.medscape.com]

  • Mucopolysaccharidosis 1

    Stiffened joints Skeletal (bone) Carpal tunnel syndrome Heart (valve) disease Recurrent upper airway infections Lung disease/sleep apnea Corneal clouding Spinal cord compression[mps1disease.com] Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.com] Affected individuals may also have hearing loss and recurrent ear infections.[ghr.nlm.nih.gov]

  • Neuhauser Syndrome

    The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov] Additional features found at low frequency (and thus not appearing in Table I) in patients with NS include primary hypothyroidism (13, 24), recurrent infections (5, 7, 15,[azdoc.site] We report two sisters with Neuhäuser [megalocornea, macrocephaly, mental and motor retardation MMMM] syndrome.[ncbi.nlm.nih.gov]

  • Spondyloepiphyseal Dysplasia Type Cantú

    : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org] INFECTION SYNDROME, AUTOSOMAL DOMINANT Deletion and duplication analysis Sequencing of all coding exons of the gene - 2.3 STK11 Peutz-Jeghers syndrome Deletion and duplication[cegat.de] Am J Med Genet. 1996;64(3):447-52 Mental retardation, macrocephaly, short stature and craniofacial dysmorphism 0 *Dwarfism *Intellectual Disability *Macrocephaly.[reference.md]

  • Kniest Dysplasia

    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] […] ear infections may lead to deafness Causes Kniest dysplasia is caused by new mutations in the COL2A1 gene.[dianamossop.com] The patient displayed macrocephaly with increased size of the neurocranium in all three dimensions.[ncbi.nlm.nih.gov]

  • Achondroplasia

    face discussion; 3) edit the list and rate it in a second round.[ncbi.nlm.nih.gov] Only one had referred recurrent respiratory infections.[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]

  • Pseudopseudohypoparathyroidism

    She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[doi.org] Immediate consequences: - recurrent respiratory infections (favored by excessive flexibility and muscular hypotonia chest -lung rickety); - poor psychomotor development -[slideplayer.com] 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]

  • Pseudohypoparathyroidism

    PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[symptoma.com] Other symptoms and signs depend on the aetiology: DiGeorge's syndrome : Recurrent infections due to T-cell immunodeficiency.[patient.info] Obesity, particularly early-onset obesity, and macrocephaly relative to height might be part of AHO 26, 27, 28.[doi.org]

  • Weaver Syndrome

    , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net] In addition, she had recurrent pulmonary infections, apneic spells, and severe developmental delay.[ncbi.nlm.nih.gov] A boy with primordial overgrowth, macrocephaly, and anomalies of the face, nails, feet and skeleton is reported.[ncbi.nlm.nih.gov]

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