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2,184 Possible Causes for Muscle Hypotonia, Overfolded Superior Helix, Single Transverse Palmar Crease

  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] transverse palmar crease 0000954 Sporadic No previous family history 0003745 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows Dense eyebrow[rarediseases.info.nih.gov] Muscle hypotonia and decreased or abolished muscle stretch reflexes are noted, whereas eye movements and sometimes verbal communication are possible. 8 TABLE 2.[pediatrics.aappublications.org]

  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] transverse palmar crease 0000954 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629[rarediseases.info.nih.gov] Affected individuals have weak muscle tone (hypotonia), and are delayed in developing motor skills such as walking. Intellectual disability is severe or profound.[ghr.nlm.nih.gov]

  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] From Wikidata Jump to navigation Jump to search chromosomal disease characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused[wikidata.org] transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.medscape.com]

    Missing: Overfolded Superior Helix
  • Zellweger Syndrome

    transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Ulnar deviation of the hand 0009487[rarediseases.info.nih.gov] The mitochondrial myopathy thereby induced allows a better understanding of general muscle hypotonia, one of the leading symptoms of this disorder.[ncbi.nlm.nih.gov] Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; muscle hypotonia; sensorineural hearing loss; visual compromise; seizures[icd10data.com]

    Missing: Overfolded Superior Helix
  • Stuve-Wiedemann Syndrome

    transverse palmar crease 0000954 Square face Square facial shape 0000321 Talipes 0001883 Talipes valgus 0004684 Thin ribs Slender ribs 0000883 Thin skin 0000963 Tibial bowing[rarediseases.info.nih.gov] Affected infants may also have underdeveloped muscle tone (hypotonia) and/or an elbow that is permanently fixed in a bent or flexed position (elbow contracture).[rarediseases.org] […] palpebral fissure Short opening between the eyelids 0012745 Short phalanx of finger Short finger bones 0009803 Short tibia Short shinbone Short skankbone [ more ] 0005736 Single[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix
  • Rubinstein-Taybi Syndrome

    transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior[rarediseases.info.nih.gov] In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation[rarediseases.org] Self-mutilation Deliberate self-harm Self mutilation [ more ] 0000742 Shawl scrotum 0000049 Short attention span Poor attention span Problem paying attention [ more ] 0000736 Single[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix
  • Wolf-Hirschhorn Syndrome

    [ncbi.nlm.nih.gov] Single Transverse Palmar Crease transverse palmar crease , broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia[symptoma.com] Generalized muscle hypotonia was observed at birth.[ncbi.nlm.nih.gov] transverse palmar crease, broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia, wide gap between first and second toes (sandal[pathophys.org]

    Missing: Overfolded Superior Helix
  • Pitt-Hopkins Syndrome

    Low muscle tone (hypotonia). Although most children with PTHS do learn to walk around the age of 4 to 6 many walk with a wide, unsteady gait.[pitthopkins.org.uk] In older children, gait looks stiff because of a combination of low muscle tone (hypotonia) and balance problems (ataxia).[ncbi.nlm.nih.gov] Neurologic and Respiratory Changes People with PTHS often have some changes in their muscle tone. Most often, they have decreased muscle tone. This is called hypotonia.[chromosome18.org]

    Missing: Overfolded Superior Helix
  • Pallister-Killian Syndrome

    Symptoms of Pallister-Killian syndrome can vary, although most individuals experience low muscle tone (hypotonia), intellectual disabilities, distinctive facial features,[diseaseinfosearch.org] This disorder is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, developmental delay/intellectual disability, distinctive facial features[secure.ssa.gov] This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair[ghr.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Mowat-Wilson Syndrome

    transverse palmar creases, microcephaly (48.5 cm, 15 showed that he grasped at 15 months; he walked alone at 3 years; and he was affectionate and smiling, but had no speech[doi.org] 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] […] hypospadias with penis recurvation (treated surgically at 4 years 5 months), right cryptorchidism, pes planus with calcaneovalgus, mild pectus excavatum, long tapered fingers, single[doi.org]

    Missing: Overfolded Superior Helix

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