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501 Possible Causes for Delayed Milestone, Mental Retardation, Round Face

  • Mucopolysaccharidosis

    However, some children can have delays in reaching developmental milestones or learning disabilities because of certain symptoms, particularly spinal problems, related to[] The above data could reflect the reduced heparan sulfate storage in her tissues and organs, and in particular in the brain, consequently explaining her moderate mental retardation[] Initial symptoms of the four types of Sanfilippo syndrome include hyperactivity, sleep disorders, and delays in attaining developmental milestones (e.g., crawling and walking[]

  • 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[] […] developmental motor milestones Delayed onset of speech Thick saliva Weak cry Excessive sleeping Hypotonia Lethargy Short stature Light colored hair Small hands and feet Skin[] (Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting[]

  • Mucopolysaccharidosis 1

    Some children with mucopolysaccharidosis type I (MPS I) have developmental delays.[] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[] […] developmental milestones and a plateau in development, followed by progressive and inexorable regression.[]

  • Congenital Muscular Dystrophy

    Hypotelorism, convergent squint Delayed milestones. MRI study of brain shows: Bilateral symmetric frontal lobar Poly micro gyria.[] CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[] Majority (87.1%) had onset of symptom in infancy with delay in motor milestones.[]

  • Pseudohypoparathyroidism

    The condition causes short stature, round face, obesity, developmental delay, and short hand bones.[] Doctors will also check for abnormal tooth development and delayed milestones to diagnose this condition in children.[] The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[]

  • Duchenne Muscular Dystrophy

    I couldn’t face another procession of sad phone calls. But, of course, I had to. ‘Nick called his parents, who lived close by, and his dad came round at once.[] All patients have symptoms by age 3 years but diagnosis is often delayed. Presenting features are: Motor milestones delayed.[] Some patients also have mild mental retardation. As DMD progresses, a wheelchair may be needed.[]

  • 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[] They, however, had a history of delayed milestones and impaired adaptive functioning. Family history was noncontributory.[] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[]

  • Down Syndrome

    Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[] One study found that mice with Down syndrome who were treated in the womb with specific chemicals had no delay in achieving several developmental milestones. 1 Another study[] Abstract Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language[]

  • Mental Retardation

    […] ears and a bulbous nose, but a rounded face, with micrognathia, long philtrum, and prominent metopic suture.[] In mental retardation, the child tends to have delayed milestones and will be slow in talking and walking.[] Zigler, Understanding Mental Retardation (1986); American Association on Mental Retardation, Mental Retardation: Definition, Classification, and Systems of Support (1992).[]

  • Propionic Acidemia

    It’s not detailed enough to round with 1. Open or select the patient(s) you want 2.[] At 3 years of age, neurodevelopment showed globally delayed milestones.[] Early OLT may limit the development of mental retardation and/or cardiomyopathy.[]

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