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725 Possible Causes for Mental Retardation, Multiple Congenital Anomalies, 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] 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]

  • 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] Birth defects are also called congenital anomalies.[en.wikipedia.org] (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]

  • 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]

  • 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] anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple mitochondrial DNA deletion syndrome Multiple mitochondrial[se-atlas.de] […] 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]

  • Cri Du Chat Syndrome

    It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure An infantile syndrome characterized[icd9data.com] retardation. delta-catenin maps to a specific region in 5p15.2 that has been implicated in the mental retardation phenotype.[ncbi.nlm.nih.gov] A female infant presented at birth with hypotonia, growth retardation, distinctive facies, multiple congenital anomalies, and a high-pitched mewing cry characteristic of cri[ncbi.nlm.nih.gov]

  • 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] Knight Karger Medical and Scientific Publishers, 15.02.2010 - 178 Seiten This remarkable publication focuses on the importance of genetics in mental retardation, investigating[books.google.de] United Arab Emirates El Kalla et al. (1992) reported the case of an infant with multiple congenital anomalies, and tetralogy of Fallot.[cags.org.ae]

  • 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] A rare sex chromosome aneuploidy syndrome, 49,XXXXY syndrome is characterized by mental retardation with severe learning difficulties, craniofacial and skeletal abnormalities[ncbi.nlm.nih.gov] A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia[ncbi.nlm.nih.gov]

  • Pseudohypoparathyroidism

    The condition causes short stature, round face, obesity, developmental delay, and short hand bones.[nlm.nih.gov] The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[ncbi.nlm.nih.gov] Patients with hypomethylation of multiple imprinted loci have been associated with increased frequency of developmental delay and congenital anomalies [ 31 ], but based on[clinicalepigeneticsjournal.biomedcentral.com]

  • Zellweger Syndrome

    face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov] A 13-year-old girl with severe mental retardation, tapetoretinal degeneration, an extinguished electroretinogram and sensoneurinal hearing loss is described.[ncbi.nlm.nih.gov] Kabuki make-up syndrome is a multiple congenital anomalies and mental retardation syndrome with characteristic facial appearance, skeletal abnormalities, dermatoglyphic abnormalities[ncbi.nlm.nih.gov]

  • 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[oadoi.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]

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