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45 Possible Causes for Brushfield Spot, Muscle Hypotonia, Short Broad Feet

  • Down Syndrome

    Brushfield's spots: Speckled iris. Little white spots that slightly elevated on the surface of the iris arranged in a ring concentric with the pupil.[medterms.com] 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] Short little finger. In-curved little finger. Short broad hands. Feet: Gap between hallux and second toes. Congenital heart defects. Duodenal atresia.[patient.info]

  • Autosomal Dominant Mental Retardation Type 21

    ) spots overlying the iris of the eye.[diapedia.org] A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.[mitomap.org] Phenotype Form of skeletal dysplasia characterized by brachydactyly, short stature, obesity, facial dysostosis (broad face, widely spaced eyes, maxillo-nasal hypoplasia),[iofbonehealth.org]

  • Partial Monosomy 18q

    Will see epicanthal folds, simian crease, brushfield spots in eyes.[kumc.edu] The might also have seizures, low muscle tone (hypotonia), speech and language delays, obesity, and short stature.[malacards.org] Other characteristic features include funnel chest, enlarged labia majora, micropenis, cryptorchidism, small hands and feet, and a short, webbed neck.[cags.org.ae]

  • Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

    spots Atlantoaxial instability Crackles Round ear Neutrophilia Duodenal stenosis Short middle phalanx of the 5th finger Shallow acetabular fossae Abnormality of the lymphatic[mendelian.co] Peripheral hypotonia that may affect any place between the spinal cord and muscle.[news-medical.net] […] palpebral fissure, broad nasal bridge, midface hypoplasia, hypotonic facies, low-set abnormal ears, pointed chin and shortened hands and feet.[epilepsydiagnosis.org]

  • Wolf-Hirschhorn Syndrome

    spots Males with Down syndrome are generally infertile.[pathophys.org] Generalized muscle hypotonia was observed at birth.[ncbi.nlm.nih.gov] Prominent forehead, wideset eyes, and broad beaked nose. Very short stature, facial deformities, malformations of hands and feet, chest, and spine. Heart defects.[medigoo.com]

  • Kaufman Oculocerebrofacial Syndrome

    spots; Cloudy cornea; Cataracts; Pigmentary retinopathy; Optic nerve dysplasia Mouth: Cleft palate; Mandible:Micrognathia Ears: Low set; Helix abnormal Limbs: Cubitus valgus[findzebra.com] 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] 80%-99% of people have these symptoms Arachnodactyly Long slender fingers Spider fingers [ more ] 0001166 Brachycephaly Short and broad skull 0000248 Flat occiput 0005469[rarediseases.info.nih.gov]

  • Macrocephaly-Developmental Delay Syndrome

    spots: Down syndrome Prominent eyes: Beckwith-Wiedemann syndrome Lisch nodules: neurofibromatosis Large pinna: Fragile X syndrome Malformed pinna: Treacher Collins syndrome[learn.pediatrics.ubc.ca] However, young AS patients may also exhibit feeding difficulties and muscle hypotonia.[clinchem.aaccjnls.org] In this group of patients, dysmorphic features were also present, including high forehead, hypertelorism, short palpebral fissures, anteverted nares, pointed chin, broad hands[journals.lww.com]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    […] nose, narrow nares, large lips, short neck, widely spaced nipples, puffy hand and feet, dark pigmented naevi, caf -au-lait spots, microcephaly, growth delay, speech delay[chr7.org] spots Term Definition AD, TSC1/2 gene ash-leaf/hypopigmented macules, shagreen patch, facial angioma/adeoma sebaceum, ungual fibromas, seizures/infantile spasms, cardiac[flashcardmachine.com] Will see epicanthal folds, simian crease, brushfield spots in eyes.[kumc.edu]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    […] hands with broad thin fingers and elongated thumbs, a mild talipes calcaneovalgus deformity of the feet, small VSD, psychomotor retardation p15 489013, 3874588, 4043965,[chr7.org] The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu] It was indicated that the children often suffer from Hypotonia (low muscle tone) (91%).[bohring-opitz.org]

  • Monosomy 21q

    Similarly, other signs not present in TY and LI but present in AL, such as Brushfield spots, abnormal teeth, joint hyperlaxity, and ventricular septal defect (table 17, are[publications.fondationlejeune.org] Hypertonia Or Hypotonia Nervous System Thinor Absent Corpus Callosum Gastrointestinal System Anterior Displacement Of The Anus With Vagino-Anal Mucosal Bridge Endocrine System[neo-genetics.com] The patient may have an extremely prominent forehead (frontal bossing), enlargement of the back part of the head, low placement of ears, short broad hands and feet, unusually[rarediseases.org]

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