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590 Possible Causes for Low Set Ears, Muscle Hypotonia

  • Rubinstein-Taybi Syndrome

    […] syn·drome ( rū'bĭn-stīn tā'bē ), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set[medical-dictionary.thefreedictionary.com] In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation[rarediseases.org] […] iliac wings 0002869 Flexion contracture 0001371 Frontal bossing 0002007 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Generalized hypotonia[rarediseases.info.nih.gov]

  • Velocardiofacial Syndrome

    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] […] eyes, hypertelorism or low-set ears.[syndromepictures.com] muscles.[ncbi.nlm.nih.gov]

  • Down Syndrome

    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] […] variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set[icd9data.com] […] syndrome there is a level of cognitive impairment, as well as the characteristic craniofacial features, such as an anteriorly and posteriorly flattened head, dysplastic low-set[symptoma.com]

  • Homocystinuria

    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] The patient shows some of the facial features that were already reported in the literature (high forehead, large floppy, low-set ears, flat philtrum and hypotonia of perioral[ncbi.nlm.nih.gov] Signs of HCY may include: Poor growth Trouble gaining weight Developmental delays Behavioral difficulties Weak muscle tone (also known as hypotonia) Pale skin and hair Seizures[babysfirsttest.org]

  • Chromosome 6q11-q14 Deletion Syndrome

    Hypotonia Nervous System Seizures Respiratory System Tracheo-Esophageal Fistula Gastrointestinal System Intestinal Malformations Synonyms: 6Q- Syndrome 6Q Deletion Syndrome[neo-genetics.com] Related phenotypes are hypertelorism and low-set ears[malacards.org] Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Low-set ears and Malar flattening, related diseases and[mendelian.co]

  • Cerebellotrigeminal Dermal Dysplasia

    Malformations of motor centers in the brain cause reduced muscle strength(Hypotonia).[en.wikipedia.org] Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment[orpha.net] Characteristics: - In PT since 4 months old - Severely delayed milestones (rolled at 10 months, crawled at 14 months, stood at 18 months, walked at 20 months) - Ataxia - Hypotonia[rhombencephalosynapsis.blogspot.com]

  • Chromosome 16q22 Deletion Syndrome

    […] malformation Low-set ears Posteriorly rotated ears Source: GTR (NCBI/NIH) 1 • • • Back to: « Chromosome 16q22 deletion syndrome • • • Symptoms and clinical features of the[familydiagnosis.com] […] psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set[malacards.org] Low-set ears Abnormality of the pinna Wide nasal bridge Short neck Blepharophimosis Upslanted palpebral fissure Narrow chest Muscular hypotonia Global developmental delay[familydiagnosis.com]

  • Monosomy 1p36 Syndrome

    ears Low set ears Lowset ears [ more ] 0000369 Malar flattening Zygomatic flattening 0000272 Metatarsus adductus Front half of foot turns inward 0001840 Noncompaction cardiomyopathy[rarediseases.info.nih.gov] Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).[malacards.org] Hypotonia may also delay sitting, crawling and walking. Muscle tone often improves with age and with physical therapy.[1p36dsa.org]

  • Camptodactyly Syndrome Type Guadalajara III

    Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability[rarediseases.info.nih.gov] […] include: 1 Clinical Features of Camptodactyly Syndrome , Guadalajara, Type II : Autosomal recessive inheritance Labial hypoplasia Microcephaly Long philtrum Micrognathia Low-set[familydiagnosis.com] […] dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set[malacards.org]

  • Wolf Hirschhorn Syndrome

    ears.[ncbi.nlm.nih.gov] Generalized muscle hypotonia was observed at birth.[ncbi.nlm.nih.gov] hypotonia, seizures, and congenital heart defects.[en.wikipedia.org]

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