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166 Possible Causes for Cognitive Developmental Delay, Pierre Robin Syndrome

  • Weissenbacher-Zweymuller Syndrome

    delays, was followed from birth to eight years.[ncbi.nlm.nih.gov] […] also called Pierre-Robin syndrome with fetal chondrodysplasia, is an autosomal recessive congenital disorder, linked to mutations (955 gly - glu) in the COL11A2 gene (located[pinterest.de] The features are neonatal micrognathia (Pierre Robin syndrome), rhizomelic chondrodysplasia with dumbbell shaped femur and humeri.[ncbi.nlm.nih.gov]

  • Monosomy 1p36 Syndrome

    Robin症候群:Pierre Robin syndrome T-5 髄膜脳瘤・無脳症シークエンス:meningomyelocele,anencephaly sequence T-6 Klippel-Feil症候群:Klippel-Feil syndrome T-7 OEIS連合:OEIS complex T-8 人魚体シークエンス:sirenomelia[nankodo.co.jp] Mowat-Wilson Syndrome a complex developmental disorder that presents with cognitive impairment, delayed motor development and epilepsy.[cureangelman.org.au] Smith-Magenis syndrome (SMS) is characterized by distinctive facial features, developmental delay, cognitive impairment, and behavioral abnormalities.[ncbi.nlm.nih.gov]

  • Wiedemann-Rautenstrauch Syndrome

    Robin症候群:Pierre Robin syndrome T-5 髄膜脳瘤・無脳症シークエンス:meningomyelocele,anencephaly sequence T-6 Klippel-Feil症候群:Klippel-Feil syndrome T-7 OEIS連合:OEIS complex T-8 人魚体シークエンス:sirenomelia[yodobashi.com] Disorder Peters Anomaly Phocomelia Pierre Robin Sequence Poland Sequence 14.[de.slideshare.net] […] syndrome T.シークエンス・スペクトラム・連合 T-1 位置決定シークエンス:laterality sequence T-2 全前脳症シークエンス:holoprosencephaly sequence T-3 鎖骨下動脈血流遮断シークエンス:subclavian artery supply disruption sequence T-4 Pierre[yodobashi.com]

  • Hartnup Disease

    Pierre Robin syndrome ピエール ロバン症候群 Pirquet ピルケー Pirquet reaction ピルケー反応 Plummer プラマー Plummer's disease プラマー病 HenryStanley Plummer (1874-1937) American internist and endocrinologist[jams.med.or.jp] ファンドラー・ハーラー症候群 Meinhardvon Pfaundler (1872-1947) Austrian pediatrician and Gertrud Hurler(1889-1965) German pediatrician Pick ピック Pick's disease ピック病 Pierre Robin ピエール ロバン[jams.med.or.jp] 1886-1957) Dutch internist and Harold JosephJeghers (1904-1990) American internist Peyronie ペイロニー Peyronie's disease ペイロニー病 Pfaundler-Hurler ファンドラー・ハーラー Pfaundler-Hurler syndrome[jams.med.or.jp]

  • DiGeorge Syndrome

    This includes: Pierre Robin's syndrome Apert's syndrome Goldenhar syndrome DiGeorge's syndrome The DiGeorge's syndrome is associated with congenital heart defects, abnormalities[news-medical.net] Diseases & Conditions Pierre Robin sequence Pierre Robin sequence (or syndrome) is a condition in which an infant has a smaller than normal lower jaw, a tongue that falls[mountsinai.org] […] this birth defect is detected and parents must be reassured that surgery would be able to correct the defect. (3) Sometimes cleft lip and palate is associated with other syndromes[news-medical.net]

  • Agenesis of the Corpus Callosum and Congenital Lymphedema

    (For more information choose “Pierre-Robin” as your search term in the Rare Disease Database).[rarediseases.org] In this study, we report a 2-year-2-month-old boy with global developmental delay, cognitive impairment, multiple congenital anomalies and behavior problems who carried a[molecularcytogenetics.biomedcentral.com] Robin syndrome Placenta previa Posterior urethral valves - 1 Posterior urethral valves - 2 Prenatal diagnosis of Arnold-Chiari III malformation by ultrasound and Fetal Magnetic[feto3d.com]

  • Microtia

    Hearing levels in Pierre Robin syndrome . Cleft Palate Craniofac J. 1995 ; 32: 30 – 36 .[doi.org] Cognitive delay is not typical for isolated microtia.[chla.org] There were many syndromic statuses that we talked about earlier, including Treacher-Collins, Pierre Robin, and CHARGE.[audiologyonline.com]

  • Diaphragmatic Hernia

    Macroglossia, large kidneys, macrosomia, other abnormalities) Pierre-Robin syndromes Outcome of pregnancies with CHD The extent of pulmonary hypoplasia at birth is the single[en.wikibooks.org] […] and developmental delay, cerebral palsy, seizure disorders, impaired vision).[emedicine.medscape.com] […] hyperventilation treatment, and ototoxic medication places this population at a higher risk for sensorineural hearing loss, as well as for neurodevelopmental abnormalities (ie, cognitive[emedicine.medscape.com]

  • 14q11-q22 Microdeletion Syndrome

    PubMed Google Scholar Bush PG, Williams AJ: Incidence of the robin anomalad (pierre robin syndrome).[molecularcytogenetics.biomedcentral.com] Nat Genet 2004;36:1213-1218 Zahir F, Firth H, Baross A, Delaney A, Eydoux P, et al: Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and[karger.com] R., China References Olasoji HO, Ambe PJ, Adesina OA: Pierre robin syndrome: an update. Niger Postgrad Med J 2007, 14: 140–145.[molecularcytogenetics.biomedcentral.com]

  • Cleft Lip

    Cleft lip and palate Cleft lip and palate Craniofacial clefts Pierre Robin syndrome Dentofacial and maxillofacial deformities Chin deformities Distraction osteogenesis Malocclusion[choa.org] delay, intellectual disability, anxiety, attention problems, learning disabilities.[dellchildrens.net] Cleft lip/palate is a part of more than 400 syndromes including Waardenburg, Pierre Robin, and Down syndromes.[entnet.org]

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