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453 Possible Causes for Airway Obstruction, Mental Retardation, 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] Oropharyngeal and tracheobronchial deposition of glycosaminoglycans results in airway obstruction due to macroglossia, supraglottic narrowing, and tracheomalacia.[symptoma.com] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch]

  • Mucopolysaccharidosis

    Although upper airway obstruction was noted, it resolved with simple airway maneuvers without further airway intervention. 2017 John Wiley & Sons Ltd.[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] In patients with MPS I, pre-existing upper airway obstruction may have contributed to the severity of some reactions.[biomarin.com]

  • Mucopolysaccharidosis 1

    Progressive upper airway disease leads to obstructive sleep apnoea.[patient.info] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am] Patients present with severe airway obstructions, cranio-facial abnormalities, short neck, stiffening of the temporomandibular joints, anteriorly positioned larynx, unstable[omicsonline.org]

  • Pseudohypoparathyroidism

    The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[ncbi.nlm.nih.gov] obstruction.[patient.info] 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]

  • Pseudopseudohypoparathyroidism

    She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[doi.org] Effects of continuous positive airway pressure on neurocognitive function in obstructive sleep apnea patients: The Apnea Positive Pressure Long-term Efficacy Study (APPLES[ncbi.nlm.nih.gov] Brachydactyly mental retardation syndrome (BDMR, OMIM #600430) is a rare genetic disorder caused by aberrations of chromosomal region 2q37 and characterized with AHO-like[degruyter.com]

  • 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] Descriptions of the development of symptoms of upper airway obstruction and sudden death of children with Prader-Willi Syndrome (PWS) while on GH therapy have led to concern[ncbi.nlm.nih.gov] (Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting[fpnotebook.com]

  • Pierre Robin Syndrome

    round face - - Micrognathia - - - - - - - - - - - - - - Bilateral inguinal hernia - - - - - - - - - - - - - - Hand anomalies - Foot abnormality - - - - - Congenital heart[molecularcytogenetics.biomedcentral.com] Sixteen cases required active treatment for episodes of airway obstruction associated with cyanosis.[ncbi.nlm.nih.gov] retardation, severe seizures, skeletal (limb) abnormalities, small head (microcephaly), small lower jaw (micrognathia) and undescended testicles (cryptorchidism).[doi.org]

  • Gastrointestinal Neuroendocrine Tumor

    The signs or symptoms of Cushing syndrome include: weight gain a red, round and full face muscle weakness increased hair growth on the face and body a buildup of fat between[cancer.ca] Thus, cryo-recanalization is a safe, cheap and effective method for the immediate management of airway obstruction.[lungindia.com] In a seminal whole‐exome study of 68 sporadic pNETs, somatic mutations of multiple endocrine neoplasia type 1 ( MEN1 ) and death domain‐associated protein/α‐thalassemia mental[onlinelibrary.wiley.com]

  • 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] Kommerell diverticulum may be asymptomatic or cause symptoms of esophageal or tracheal obstruction.[radiopaedia.org] Megalocornea and mental retardation syndrome. Am J Med Genet 1988;29:221-223. [ Links ] 4. Gronbech-Jensen M. Megalocornea and mental retardation syndrome: a new case.[scielo.br]

  • Pseudohypoparathyroidism Type 1A

    In children aged 2 years, the commonest clinical features were round lunar face, obesity (70%), and subcutaneous ossifications (60%).[ncbi.nlm.nih.gov] […] on neurocognitive function in obstructive sleep apnea patients: The Apnea Positive Pressure Long-term Efficacy Study (APPLES).[karger.com] retardation.[ncbi.nlm.nih.gov]

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