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1,174 Possible Causes for Cleft Palate, Muscle Hypotonia

  • Velocardiofacial Syndrome

    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]

  • 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] 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] The incomplete formation in cleft palate is characterized by a groove in the middle of the roof of the mouth.[medfriendly.com]

  • 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]

  • Angelman Syndrome

    A child with Angelman syndrome, cutis aplasia, cleft palate, and congenital microform cleft lip, born to a father with a Robertsonian translocation 13;15 is described.[ncbi.nlm.nih.gov] Cerebellar ataxia, muscle hypotonia and tremor, though constant in childhood, tend to be attenuated in adulthood.[ncbi.nlm.nih.gov] hypotonia, EEG abnormalities, and peculiar facies marked by a protruding jaw and tongue, occipital depression, and blue eyes.[whonamedit.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] It is characterized by mental retardation, microcephaly, seizures, muscle hypotonia, a distinctive facial appearance with prominent forehead and wide set eyes, growth failure[flipper.diff.org]

  • De Barsy Moens Diercks Syndrome

    Most of the cases present at birth or by early infancy. [3] Genevieve et al . reported association of cleft of hard palate with autosomal recessive type of cutis laxa. [4][jclpca.org] However, features such as muscle hypotonia, cataracts, mental retardation, and neurologic deficits are not readily explained by abnormalities of the elastic system.[jamanetwork.com] […] mass tone (hypotonia), and also episodes in which there is short-lived cessation of spontaneous berathing (apnea).[valleyfamilymedicineurgentcarecenter.com]

  • X-Linked Intellectual Disability Type Snyder

    palate , and facial asymmetry.[rarediseases.info.nih.gov] SRS results from a mutation in SMS and produces a complex multi-systemic phenotype including intellectual disability, dysmorphic facies, muscle hypotonia, kyphoscoliosis,[ashg.org] Osteoporosis MedGen UID: 776590 • Concept ID: C2911643 • Finding Cleft palate MedGen UID: 3107 • Concept ID: C0008925 • Congenital Abnormality A congenital abnormality consisting[ncbi.nlm.nih.gov]

  • 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]

  • 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] […] duplication syndrome or extra genetic material on the long arm of chromosome 22 can cause changes in the formation of the heart leading to heart defects, to weak or "floppy" muscle[thinkgenetic.com]

  • Homocystinuria

    A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. Am. J. Dis. Child., 113:214, 1967. ‎[books.google.ro] hypotonia at birth; progressive scoliosis, present at birth or within the first year of life; and scleral fragility and increased risk of rupture of the globe.[medicalhomeportal.org] […] and masticatory muscles) but no dolichocephalic skull nor long face.[ncbi.nlm.nih.gov]

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