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56 Possible Causes for Brushfield Spot, Short Broad Feet, Ventricular Septal Defect

  • Down Syndrome

    CONCLUSION: More than one-third of children with DS have CHD with ventricular septal defect, which is the most common.[ncbi.nlm.nih.gov] Short little finger. In-curved little finger. Short broad hands. Feet: Gap between hallux and second toes. Congenital heart defects. Duodenal atresia.[patient.info] 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]

  • Smith-Magenis Syndrome

    This report adds pulmonary atresia and ventricular septal defect to the spectrum of cardiac defects seen in SMS.[ncbi.nlm.nih.gov] Both conditions share brachycephaly, upward slanting palpebral fissures, a short and broad nose, a round face with midface flattening, iris hamartomas (Brushfield spots in[jmg.bmj.com] Fetus 2 had increased NT, pulmonary stenosis, and a ventricular septal defect, and showed a de novo 3.68-Mb deletion at 17p11.2.[ncbi.nlm.nih.gov]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    defect ASD, ventricular septal defect VSD, patent ductus arterious PDA or TOF, especially if there is pulmonary atresia.[pharmaexpress.net] The hands are typically short and broad and often have a single transverse palmar crease.[merckmanuals.com] The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu]

  • Monosomy 21q

    septal defect, and rocker-bottom feet.[ncbi.nlm.nih.gov] 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] 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]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    […] of the ventricular septum, view from the right ventricle: Di George's syndrome, ventricular septal defect, Macro, autopsy (72367) Defect of the ventricular septum, view from[atlases.muni.cz] The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu] […] 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]

  • Trisomy 9

    Cardiovascular abnormalities were characterized by a right-sided, U-shaped aortic arch associated with a ventricular septal defect (VSD).[ncbi.nlm.nih.gov] , short neck, overlapping fingers, rocker-bottom feet, prominent heels, and hypoplastic toenails.[ncbi.nlm.nih.gov] Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, brushfield spots on the iris, protruding tongue, small[icd9data.com]

  • Partial Trisomy 21 in Down Syndrome

    septal defect and atrioventricular canal defect.[symptoma.com] Short little finger. In-curved little finger. Short broad hands. Feet: Gap between hallux and second toes. Congenital heart defects. Duodenal atresia.[patient.info] Physical characteristics may include depressed nasal bridge, low-set ears, mouth-breathing and brushfield spots and bilateral epicanthal folds.[blog.geneticslab.emory.edu]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    septal defect).[hawaii.edu] 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] […] 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]

  • Meckel Syndrome Type 1

    Cardiological disorders The most common cardiac abnormalities are: Atrioventricular canal defects. Ventricular septal defect. Isolated secundum atrial septal defects.[patient.info] Heart abnormalities may include atrial and ventricular septal defects (ASDs and VSDs) and patent ductus arteriosus.[rarediseases.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]

  • Wolf-Hirschhorn Syndrome

    The patient had a small ventricular septal defect, was wheelchair bound, and totally dependent. He had no speech, but vocalised to show his feelings.[ncbi.nlm.nih.gov] spots Males with Down syndrome are generally infertile .[pathophys.org] 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]

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