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128 Possible Causes for Mental Retardation, Recurrent Otitis Media, Round Face

  • Mucopolysaccharidosis

    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 our case, MPS IIIB was diagnosed at an early age because recurrent wheezing and otitis media in conjunction with hepatomegaly were recognised as more than trivial findings[ncbi.nlm.nih.gov] Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies A syndrome[icd9data.com]

  • Mucopolysaccharidosis 2

    Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch] otitis media Broad chest Ivory-colored papular skin lesions on the upper back and sides of the upper arms Protuberant abdomen Diarrhea Short stature Skeletal deformities[symptoma.com] media, upper airway obstruction, obstructive sleep apnea, and impaired exercise tolerance [Berger et al., 2012].[karger.com]

  • Mucopolysaccharidosis 1

    Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am] otitis media Impaired hearing Recurrent sinopulmonary infections Upper airway obstruction Sleep apnea Reduced pulmonary function Cardiac abnormalities and valvular disease[biomarin.com] Recurrent respiratory infections were noted in 11 of the 27 patients (41%) and recurrent otitis media was seen in 19 (70%), all with documented conductive hearing loss and[jamanetwork.com]

  • Pseudohypoparathyroidism

    The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[ncbi.nlm.nih.gov] Finally, many paediatric patients have a history of recurrent otitis media requiring a tympanostomy tube or tympanoplasty 230.[doi.org] 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]

  • Chromosome 18p Deletion Syndrome

    […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[checkorphan.org] Abstract Deletion of the short arm of chromosome 18 is a rare syndrome clinically presenting with variable mental retardation, growth retardation, low height, pectus excavatum[ncbi.nlm.nih.gov] otitis media and hearing loss.[ijcasereportsandimages.com]

  • 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[orpha.net] Abstract Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language[dx.doi.org] These include: A round face with a flat profile and small facial features (nose, mouth, ears, and eyes) Protruding tongue Almond-shaped upturned eyes with epicanthus folds[verywell.com]

  • Mowat-Wilson Syndrome

    Facial features include square-shaped face with deep-set, widely spaced eyes, broad nasal bridge with a rounded nasal tip and a prominent pointed c read more[ctgt.net] Recently mutations in the gene ZFHX1B (SIP1) were shown in patients with "syndromic Hirschsprung disease" with mental retardation (MR) and multiple congenital anomalies (MCA[ncbi.nlm.nih.gov] otitis media Recurrent middle ear infection 0000403 Percent of people who have these symptoms is not available through HPO Abdominal distention Abdominal bloating Abdominal[rarediseases.info.nih.gov]

  • X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome

    face-developmental delay syndrome Congenital hereditary facial paralysis-variable hearing loss syndrome Congenital hydrocephalus Congenital ichthyosis-intellectual disability-spastic[se-atlas.de] An X-linked recessive basal ganglia disorder with mental retardation.[ncbi.nlm.nih.gov] otitis media, scoliosis) 12.[quizlet.com]

  • Kniest Dysplasia

    The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( 3 ) References: GARD:6841 MESH:C537207 OMIM:156550 Ontology: Human Disease[zfin.org] Página 320 - Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur[books.google.es] Recurrent otitis media may lead to conductive hearing impairment or hearing loss.[symptoma.com]

  • XXXXY Syndrome

    face in infancy,(Look very much like a cherub) coarse features in older age, hypertelorism, epicanthal folds, prognathism, gynecomastia (rare), congenital heart defects ([web.archive.org] Both boys are mentally retarded with short stature, muscular hypotonia, and hypogonadism.[ncbi.nlm.nih.gov] Boys with 49,XXXXY may have an increased incidence of atopy (a heightened immune response to common allergens) and antibody deficiency, recurrent otitis media, and asthma[thefocusfoundation.org]

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