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529 Possible Causes for Dysphagia, High Arched Palate, Microcephaly

  • Down Syndrome

    Microarray detected an intragenic microdeletion of DYRK1A in an individual with microcephaly and autism.[] […] characteristic craniofacial features, such as an anteriorly and posteriorly flattened head, dysplastic low-set ears, small nose, depressed nasal bridge, protruding tongue, high-arched[] In this report we present a 28-year-old male patient with a history of Down syndrome and achalasia, who presented with recurrent dysphagia, gastroesophageal reflux, and recurrent[]

  • Congenital Muscular Dystrophy

    In addition, our patient displayed primary microcephaly, not previously reported associated with fukutin mutations.[] Clinical description Weakness of the facial muscles, a high-arched palate, congenital hip dislocation, protrusion of the calcaneus, torticollis, transient kyphotic deformity[] Mechanical insufflation-exsufflation (MI-E) interventions were also employed in six patients with serious dysphagia and were well-tolerated in all cases.[]

  • Rubinstein-Taybi Syndrome

    Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation, microcephaly[] (RTS) is a rare disorder affecting 1 of 300,000 people, characterized by growth, mental and motor retardation, small stature, broad thumbs and toes, characteristic face, high-arched[] Feeding difficulties (dysphagia) may occur and many affected individuals are prone to repeated respiratory infections.[]

  • Mandibulofacial Dysostosis

    Ear malformation on the right side was observed in our case Macrostomia, high-arched palate, malocclusion, and abnormal position of the teeth.[] Our proband was born at 36 weeks gestation with microcephaly, microcrania, cleft palate, severe retrognathia, oral and pharyngeal dysphagia, bilateral proximal radioulnar[] Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features,[]

  • Cri Du Chat Syndrome

    Cri du chat syndrome is characterized by cat-like cry, facial dysmorphisms, microcephaly, speech delay, intellectual disability and slow growth rate, which are present with[] arched palate as individuals with 5p deletion get older change of phenotype is noted and it is less striking and harder to diagnose (face lengthens, face becomes "coarse"[] Thus, an NG feeding tube was inserted, and dysphagia treatment was initiated on the sixth day after birth.[]

  • Cornelia De Lange Syndrome

    CdLS, also called Brachmann-de Lange syndrome - BdLS) is a multisystem developmental disorder characterized by distinctive facial features, growth and mental retardation, microcephaly[] palate or cleft palate.[] His presentation included mixed hearing loss, dysphagia, microaspiration, gastroesophageal reflux, and failure to thrive.[]

  • Smith Lemli Opitz Syndrome

    The syndrome is characterized by growth retardation, microcephaly (small head), mental retardation, and malformations that include distinctive facial features, cleft palate[] […] hypertelorism with bilateral inner epicanthal folds, a broad nasal bridge with slightly anteverted nares and patent choanae, low set ears and complex conchal formation, high-arched[] Oral hyposensitivity or hypersensitivity, adverse behaviors, and risk for dysphagia were seen in 65% of the children with SLOS.[]

  • Multiple Endocrine Neoplasia Type 2B

    New Tests Histiocytosis-Lymphadenopathy Plus Syndrome via SLC29A3 Gene Sequencing with CNV Detection ( #11001 ) Lissencephaly-6 with Microcephaly via KATNB1 Gene Sequencing[] Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus.[] Dysphagia, which has not been previously reported in the syndrome was also present.[]

  • Mowat-Wilson Syndrome

    head ( microcephaly ), other birth defects , and delayed development and motor skills.[] Palatal anomalies are seen commonly with cleft palate, bifid uvula, and a high arched palate being the common findings.[] arched palate Full or everted lower lip Medially sparse broad eyebrows Uplifted ear lobes with a central depression Moderate to severe intellectual disability is usual.[]

  • Craniosynostosis

    , arched palate.[] […] craniosynostosis had increased odds of presenting with stertor (odds ratio [OR] 3.41, P .022), increased work of breathing (OR 18.8, P .007), obstructive sleep apnea (OR 8.48, P .003), dysphagia[] We report on a patient affected by intellectual disability, craniosynostosis, and microcephaly.[]

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