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859 Possible Causes for Growth Retardation, Hypertelorism, Rarely Malignant

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[ncbi.nlm.nih.gov] Facial dysmorphism, growth retardation, and various heart defects are typical clinical features. In patients with minor cardiac pathology, life expectancy is normal.[ncbi.nlm.nih.gov] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    Because of the slow progressive nature of this disease and its atypical symptoms, the misdiagnosis of MPS IIIB is not rare in clinical practice.[ncbi.nlm.nih.gov] Previous reports on clinical characteristics of Morquio A mainly focused on growth retardation, skeletal deformities, and organ damage in children and adolescents, while the[ncbi.nlm.nih.gov] Symptoms may include growth retardation, a prominent lower face, an abnormally short neck, knees that are abnormally close together (knock knees or genu valgum), flat feet[rarediseases.org]

  • Acrocallosal Syndrome

    Severe Malignant Osteopetrosis November 20, 2018 by Peter Ciszewski Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density[checkrare.com] retardation.[ncbi.nlm.nih.gov] […] moderate to severe mental retardation, hypotonia, agenesis of the corpus callosum and preaxial polydactyly involving both feet and the facial features like broad forehead and hypertelorism[ncbi.nlm.nih.gov]

  • Gorlin Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[ncbi.nlm.nih.gov] Her phenotypic evolution was characterized by severe growth retardation with decelerated growth of the head and subsequently a relatively small head, normal intelligence,[ncbi.nlm.nih.gov] Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding[ncbi.nlm.nih.gov]

  • Dubowitz Syndrome

    Rare reports have described malignant tumors (primarily of hematologic origin), aplastic anemia and immunological deficits (IgA deficiency).[symptoma.com] […] syndrome Human disease Dubowitz's syndrome (disorder) Dubowitz's syndrome Dwarfism-eczema-peculiar facies syndrome Intrauterine growth retardation, short stature, microcephaly[wikidata.org] Fig 2: A 9-year-old boy with Dubowitz syndrome with dental anomalies, hypertelorism, and unilateral ptosis.[healio.com]

  • Gorlin-Chaudhry-Moss Syndrome

    TLS was rarely described in patients with malignant melanoma.[biomedsearch.com] When intrauterine growth retardation is observed, the cause most likely is attributable to the genotype.[symptoma.com] […] vaulted, narrow palate, cleft soft palate), ear (hypoplastic lobe and deafness), and skull (midface hypoplasia, brachycephaly, premature synostosis of the coronal sutures, hypertelorism[accessanesthesiology.mhmedical.com]

  • Baraitser-Winter Syndrome 1

    Severe Malignant Osteopetrosis November 20, 2018 by Peter Ciszewski Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density[checkrare.com] Systemic Features: Postnatal growth retardation leads to short stature.[disorders.eyes.arizona.edu] Abstract To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation.[ncbi.nlm.nih.gov]

  • Kenny-Caffey Syndrome Type 1

    WAGR Syndrome May 15, 2018 by Peter Ciszewski WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies[checkrare.com] The common findings are hypocalcaemia, growth retardations, hypoparathyroidism, and abnormal facial features.[ijem.in] Affiliated tissues include bone , eye and neutrophil , and related phenotypes are hypertelorism and delayed skeletal maturation[malacards.org]

  • Growth Failure

    […] lympho-reticular malignancies, significant microcephaly, and radiation hypersensitivity.[semanticscholar.org] Linear Growth Retardation 2. Linear Growth Retardation Linear growth retardation (stunting) is prevalent (10-80%) in developing countries.[de.slideshare.net] (A) Lateraland (B) frontal views of the face of the boy at 5 years of age show medialeyebrow flare, wide nasalbridge, hypertelorism, epicanthal folds, broad nasal tip with[cyberleninka.org]

  • Mowat-Wilson Syndrome

    Cases of malignant hyperthermia without administration of triggering anesthetic agent have been described: it seems that these rare cases combine a mutation of the RyR1 gene[sites.uclouvain.be] Some cases also present with epilepsy, growth retardation with microcephaly and speech impairment.[ncbi.nlm.nih.gov] […] congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism[ncbi.nlm.nih.gov]

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