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576 Possible Causes for Kyphosis, Macrocephaly, 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] The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[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

    […] and distal junctional kyphosis angles, and the apical vertebral wedge angle.[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] 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

    An initial kyphosis angle greater than 45 was predictive of progression of more than 10 with sensitivity of 67% and specificity of 88%.[ncbi.nlm.nih.gov] Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.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]

  • Achondroplasia

    face discussion; 3) edit the list and rate it in a second round.[ncbi.nlm.nih.gov] No worsening of kyphosis was observed 24 months postoperatively.[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]

  • Prader-Willi Syndrome

    (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 4 kyphosis required reoperation, 3 of which were complicated with permanent spinal cord injury. Minor complications affected 6 patients.[ncbi.nlm.nih.gov] 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]

  • 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] 8/15 53 Hypertelorism 10/22 - 10/23 44 Broad nasal root 14/17 - 14/18 78 Micrognatia 19/34 19/35 54 High arched palate 9/34 - 9/35 26 Joint hyperlaxity 10/34 - 10/35 29 Kyphosis[azdoc.site] We report two sisters with Neuhäuser [megalocornea, macrocephaly, mental and motor retardation MMMM] syndrome.[ncbi.nlm.nih.gov]

  • 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] Patients develop severe dorsal kyphosis or kyphoscoliosis and lumbar lordosis. Synonym: Swiss cheese cartilage syndrome[medical-dictionary.thefreedictionary.com] The patient displayed macrocephaly with increased size of the neurocranium in all three dimensions.[ncbi.nlm.nih.gov]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[se-atlas.de] Limited elbow extension Lumbar lordosis, increased Metaphyseal striations Mild mesomelia Osteopenia Platyspondyly Relative increase in anterior vertebral body height Thoracic kyphosis[datagenno.com] […] spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly[orpha.net]

  • 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] Parastremmatic dwarfism 0 *Dwarfism *Kyphosis *Intellectual Disability *Scoliosis. Brachydactylous dwarfism Mseleni type 0 *Dwarfism *Joint Diseases *Osteoarthritis.[reference.md] Kyphosis may be accompanied by sideways curvature of the spine (scoliosis). Abnormal spinal curvature may worsen with age.[rarediseases.org]

  • Platyspondyly

    Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent[mendelian.co] […] short stature Spondyloepimetaphyseal dysplasia Thoracic kyphosis Coxa vara Lumbar scoliosis Mucopolysacchariduria Stiff neck Lumbar hyperlordosis Osteoporosis Posteriorly[mendelian.co] Related symptoms: Autosomal recessive inheritance Autosomal dominant inheritance Pica Micrognathia Macrocephaly SOURCES: UMLS OMIM MONDO More info about FIBROCHONDROGENESIS[mendelian.co]

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