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993 Possible Causes for Cleft Palate, Muscle Hypotonia

  • Dandy-Walker Syndrome

    A boy was born with Dandy-Walker syndrome associated with a giant occipital meningocele, cleft lip, and cleft palate.[ncbi.nlm.nih.gov] […] cerebellar vermis and fourth ventricle.[ 3 ] Infants with DWM may present with early signs such as vomiting, sleepiness, irritability, convulsions, unsteadiness and lack of muscle[ncbi.nlm.nih.gov] Some of the patients have other malformations associated with this syndrome include, Occipital Encephalocel, facial angioma, midline cleft palate, cardiovascular malformations[rjms.iums.ac.ir]

  • Velocardiofacial Syndrome

    PARTICIPANTS: Eight children with VCFS and five children with nonsyndromic cleft palate or VPD.[ncbi.nlm.nih.gov] Distinct physical features sometimes associated with the syndrome include loss of muscle tone (hypotonia), small slender stature, tapered hands and fingers, small head circumference[rarediseases.org] muscles.[ncbi.nlm.nih.gov]

  • Dubowitz Syndrome

    He also had a submucous cleft palate and cineradiographic studies showed velopharyngeal insufficiency.[ncbi.nlm.nih.gov] Low or weak muscle tone 0001252 Neuroblastoma Cancer of early nerve cells 0003006 Otitis media Middle ear infection 0000388 Pes planus Flat feet Flat foot [ more ] 0001763[rarediseases.info.nih.gov] Overt cleft palate or submucous cleft palate is not a prevalent finding (16%). High-pitched and hoarse voice quality appears to be a constant feature.[ncbi.nlm.nih.gov]

  • Goldberg-Shprintzen Syndrome

    Several reports with variable association of microcephaly, iris coloboma, cleft palate and mental retardation, and regarded as possible variants GSS, are unlikely allelic[humpath.com] hypotonia Ocular problems Risk for rupture of medium-sized arteries Respiratory compromise if kyphoscoliosis is severe By deficient activity of the enzyme Procollagen- lysine[medicinman.cz] Other common features of Shprintzen-Goldberg syndrome include heart or brain abnormalities, weak muscle tone (hypotonia) in infancy, and a soft out-pouching around the belly-button[ghr.nlm.nih.gov]

  • Spondyloepiphyseal Dysplasia Congenita

    We report four patients with cleft palate and SEDC including two with overt cleft palate and two with submucous cleft palate.[ncbi.nlm.nih.gov] In spite of generalized muscle hypotonia, the patient's response to atracurium was normal.[journals.lww.com] Hypotonia (diminished muscle tone), muscle weakness, and/or stiffness is exhibited in most cases.[encyclopedia.com]

  • Wolf Hirschhorn Syndrome

    ., cleft palate) is reported for the first time.[ncbi.nlm.nih.gov] Generalized muscle hypotonia was observed at birth.[ncbi.nlm.nih.gov] hypotonia, seizures, and congenital heart defects.[en.wikipedia.org]

  • Mowat-Wilson Syndrome

    Palatal anomalies are seen commonly with cleft palate, bifid uvula, and a high arched palate being the common findings.[symptoma.com] Low or weak muscle tone 0001252 Open mouth Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ] 0000194 Posteriorly rotated ears Ears rotated toward[rarediseases.info.nih.gov] Mouth-related symptoms that may occur include widely spaced teeth, cleft palate, daytime bruxism, bad biting habits and reduced pain sensitivity.[mun-h-center.se]

  • Craniofrontonasal Dysplasia

    Patients also had cleft lip-cleft palate (10 percent), ear deformities (19 percent), strabismus or esotropia (81 percent), dry frizzy hair (100 percent), syndactyly (14 percent[ncbi.nlm.nih.gov] Some individuals affected by CFND may also have diminished muscle tone (hypotonia), developmental delays, hearing impairment (sensorineural deafness), a sunken chest (pectus[rarediseases.org] Diagnosis - Craniofrontonasal dysplasia * Broad nose * Esotropia * Telechantus * Highly arched palate * Cleft lip * Cleft palate * Clavicle pseudoarthrosis * Short fifth finger[checkorphan.org]

  • 22q11.2 Duplication Syndrome

    Cleft palate If your child is born with a cleft palate, you should consult a plastic surgeon that specializes in cleft palate and velopharyngeal incompetence.[chop.edu] […] tone (hypotonia).[thinkgenetic.com] Affected individuals may have intellectual or learning disability, developmental delay, slow growth leading to short stature, and weak muscle tone (hypotonia).[malacards.org]

  • Lenz-Majewski Syndrome

    We report a sporadic case of Lenz-Majewski syndrome (LMS) with newly recognized manifestations including facial palsy, cleft palate and hydrocephalus developing later in infancy[ncbi.nlm.nih.gov] Hypotonia Bones And Joints Hyperostosis Diaphyseal Undermodeling Of Long Bones Thickening Of Midshaft Cortices Hypoostosis Of Metaphyses And Epiphyses Related: L[neo-genetics.com] Wattanasirichaigoon D, Visudtibhan A, Jaovisidha S et al (2004) Expanding the phenotypic spectrum of Lenz–Majewski syndrome: facial palsy, cleft palate and hydrocephalus.[link.springer.com]

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