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804 Possible Causes for Congenital Heart Disease, 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] 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]

  • 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] […] 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] retardation MPS I-H/S - Milder features; normal intelligence and micrognathia; corneal clouding, joint stiffness, and heart disease MPS IS - Aortic valve disease, corneal[emedicine.medscape.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] heart disease (CHD) found in this population, to review the literature for previously published accounts of CHD in this population, and to review current genotype-phenotype[ncbi.nlm.nih.gov] retardation. delta-catenin maps to a specific region in 5p15.2 that has been implicated in the mental retardation phenotype.[ncbi.nlm.nih.gov]

  • Pseudohypoparathyroidism

    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] Congenital heart disease and its related symptoms, heart murmur. Speech delay. Abnormal facies: cleft palate, micrognathia, ear abnormalities.[patient.info] The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[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] PDA is a common congenital heart disease that results when the ductus arteriosus, a muscular artery, fails to remodel and close after birth.[synapse.koreamed.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]

  • 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] heart disease and Down syndrome.[ncbi.nlm.nih.gov] Abstract Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language[oadoi.org]

  • Mandibulofacial Dysostosis

    Extracraniofacial malformations include esophageal atresia, congenital heart disease, and radial ray abnormalities.[ncbi.nlm.nih.gov] Follow-up of these patients revealed growth and mental retardation, and severe language and speech delay.[ncbi.nlm.nih.gov] The hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares,[ncbi.nlm.nih.gov]

  • Smith Lemli Opitz Syndrome

    Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com] Chest radiography is important in looking for congenital heart disease and/or congenital pulmonary abnormalities.[patient.info] Smith-Lemli-Opitz syndrome, a syndrome of multiple malformations and mental retardation that for years was relegated to the atlases of genetic esoterica, was recently found[ncbi.nlm.nih.gov]

  • Pierre Robin Syndrome

    round face - - Micrognathia - - - - - - - - - - - - - - Bilateral inguinal hernia - - - - - - - - - - - - - - Hand anomalies - Foot abnormality - - - - - Congenital heart[molecularcytogenetics.biomedcentral.com] Congenital heart disease occurs in about 20 percent of patients with Pierre Robin syndrome.[ncbi.nlm.nih.gov] retardation, severe seizures, skeletal (limb) abnormalities, small head (microcephaly), small lower jaw (micrognathia) and undescended testicles (cryptorchidism).[doi.org]

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