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739 Possible Causes for Mental Retardation, Round Face

  • Pseudohypoparathyroidism

    The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[ncbi.nlm.nih.gov] 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] METHODS AND RESULTS: The GNAS gene of a 5-year-old boy with brachydactily, mental retardation, pseudohypoparathyroidism and congenital hypothyroidism was investigated.[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] 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] She was 153 cm tall and weighed 109 kg with a round face.[endocrine-abstracts.org]

  • 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] Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies A syndrome[icd9data.com] retardation.[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy

    CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[ncbi.nlm.nih.gov] This 17-year-old girl presented with congenital muscular dystrophy, profound mental retardation, white matter changes and subtle structural abnormalities on brain MRI.[ncbi.nlm.nih.gov] retardation.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch] The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[ncbi.nlm.nih.gov] In the severe form, there is severe mental retardation and loss of skills.[mjdrdypu.org]

  • 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] (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] Retardation, Vienna.[whonamedit.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] […] gargoylism) the most severe of the three types with coarse (gargyloid) facies, accelerated growth from infancy followed by progressive decline in the rate of development, mental[icd10data.com] Corneal deposition is usually associated with skeletal dysplasia; similarly, mental retardation is associated with pigmentary retinopathies. [8], [9] The detection of GAG's[jcor.in]

  • 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] 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] Facial features included a round face, low frontal hairline, mild frontal bossing, broad nasal bridge, large corneas, mild hypertelorism, long upper lip, high palate, and[omim.org]

  • Chromosome 18p Deletion Syndrome

    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] […] 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] The main clinical manifestations are mental retardation, growth retardation, craniofacial dysmorphism including round face, dysplastic ears, wide mouth and dental anomalies[omim.org]

  • Aarskog Syndrome

    face with widow's peak and, in one of them, ptosis of the eyelids.[ncbi.nlm.nih.gov] His mother had minor abnormalities of the hands and feet, and slight mental retardation.[ncbi.nlm.nih.gov] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov]

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