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20 Possible Causes for Growth Retardation Onset in Utero

  • Hoyeraal-Hreidarsson Syndrome

    Definition A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood[uniprot.org] ., 2010 ).Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero.[mendelian.co] Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency.[uniprot.org]

  • Fetal Hydantoin Syndrome

    Rats exposed in utero to phenytoin on gestational days 9, 11, and 13 exhibited fetal onset growth retardation, abnormalities of the craniofacial region and axial skeleton.[ncbi.nlm.nih.gov] This pattern of altered growth and development includes growth retardation, craniofacial anomalies, distal phalangeal hypoplasia, and mental deficiency.[ncbi.nlm.nih.gov]

  • Dyskeratosis Congenita

    Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency.[uniprot.org] Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero.[ncbi.nlm.nih.gov] Disease description A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death[uniprot.org]

  • Autosomal Dominant Aplasia and Myelodysplasia

    […] in utero.[mendelian.co] ., 2010 ).Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero.[mendelian.co] Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and[mendelian.co]

  • Myelocerebellar Disorder

    […] in utero.[mendelian.co] Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and[mendelian.co] […] summary by Kirwan and Dokal, 2008 ).Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset[mendelian.co]

  • Hereditary Mucoepithelial Dysplasia

    […] in utero.[mendelian.co] Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and[mendelian.co] […] summary by Kirwan and Dokal, 2008 ).Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset[mendelian.co]

  • Hematologic Disease

    retardation, Congenital malformations (30%-50%) 1:100,000 and 1:200,000 Age of onset: 1 year Dyserythropoietic anemia COX4I2, C15orf41, KIF23, KLF1 Moderate to severe macrocytic[centogene.com] Adult onset Diamond-Blackfan anemia RPS28, RPS19, RPS26, RPL26, RPL15, RPS29, TSR2, RPS24, RPS17, RPL35A, RPL5, RPL11, RPS7, RPS10, Pallor, weakness, failure to thrive, Growth[centogene.com] […] anemia presenting occasionally in utero as severe anemia associated with hydrops fetalis but more commonly in neonates as hepatomegaly, early jaundice, and intrauterine growth[centogene.com]

  • X-Linked Mandibulofacial Dysostosis

    retardation, Congenital malformations (30%-50%) 1:100,000 and 1:200,000 Age of onset: 1 year Dyserythropoietic anemia COX4I2, C15orf41, KIF23, KLF1 Moderate to severe macrocytic[centogene.com] Adult onset Diamond-Blackfan anemia RPS28, RPS19, RPS26, RPL26, RPL15, RPS29, TSR2, RPS24, RPS17, RPL35A, RPL5, RPL11, RPS7, RPS10, Pallor, weakness, failure to thrive, Growth[centogene.com] […] anemia presenting occasionally in utero as severe anemia associated with hydrops fetalis but more commonly in neonates as hepatomegaly, early jaundice, and intrauterine growth[centogene.com]

  • Schimke Immunoosseous Dysplasia

    SIOD varies in severity, ranging from in utero onset of growth retardation with death in the first few years of life to a slowly progressive course with survival into adulthood[ncbi.nlm.nih.gov]

  • Annular Epidermolytic Ichthyosis

    ., 2010 ).Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero.[mendelian.co] Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes[mendelian.co]

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