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547 Possible Causes for Brushfield Spot, Overfolded Superior Helix, Single Transverse Palmar Crease

  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] 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] 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] We did not observe any Brushfield spots, any renal and brain cysts, or adrenal insufficiency.[ncbi.nlm.nih.gov] Clinical Features [ edit ] Craniofacial Features Flat occiput and face Anteverted nares Epicanthal folds Brushfield spots High forehead Large fontanels Shallow orbits Ocular[en.wikibooks.org]

    Missing: Overfolded Superior Helix
  • 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] transverse palmar crease Feeding difficulties in infancy Narrow forehead Brachydactyly Hypoplasia of the corpus callosum Craniosynostosis Constipation Hypermetropia Coloboma[mendelian.co]

  • 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] […] macrocephaly; constipation that may be associated with anal anomalies; broad thumbs and halluces; prominent fingertip pads; and small, rounded, cupped ears that often have an overfolded[ncbi.nlm.nih.gov]

    Missing: Brushfield Spot
  • 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] spots Males with Down syndrome are generally infertile .[pathophys.org] spots Small, low-set, abnormally shaped ears Short neck with loose folds of skin, especially in infancy Fine, soft, sparse hair Single palmar crease Increased incidence of[alpfmedical.info]

    Missing: Overfolded Superior Helix
  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    transverse palmar crease Brachycephaly Coma Respiratory insufficiency Anteverted nares Craniosynostosis Wide nasal bridge Hypertension Epicanthus Visual impairment Anal atresia[mendelian.co] 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] transverse palmar crease -Complete atrioventricular canal VSD ASD -Duodenal atresai, hirschsprung disease -earlyonset AD -Hypothyroidism, DMI -Atlantoaxial instability CAH[quizlet.com]

    Missing: Overfolded Superior Helix
  • Microphthalmia Syndromic 6

    transverse palmar crease ; Small scrotum ; Small sella turcica ; Toe syndactyly ; Uplifted earlobe ; Ventriculomegaly Associated Genes BMP4 (Withdrawn symbols: BMP2B ) Mouse[mousephenotype.org] Eye problems associated with this syndrome are myopia and "Brushfield" spots (gray or pale yellow spots at the periphery of the iris).[tsbvi.edu] spots, upslanting palpebral fissures, epicanthal folds/Most cases not inherited /Trisomy 21 (most cases), translocation, mosaic /#190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[eyewiki.org]

    Missing: Overfolded Superior Helix
  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    transverse palmar crease Highly arched eyebrow Hirsutism Poor speech Wide intermamillary distance Gait ataxia Areflexia Broad hallux Broad forehead Tics Intellectual disability[mendelian.co] Brushfield spots (gray to white spots resembling grains of salt around the periphery of the iris) may be visible.[merckmanuals.com] The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu]

    Missing: Overfolded Superior Helix
  • Aarskog-Scott Syndrome

    transverse palmar crease 0000954 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes 0001883 1%-4% of people have these symptoms Broad philtrum 0000289 Global[rarediseases.info.nih.gov] Sporadic Symptoms Round face and a shorter neck, epicanthic folds, maxillary hypoplasia, which causes several facial abnormalities, and single transverse palmar crease may[news-medical.net] […] planus Flat feet Flat foot [ more ] 0001763 Round face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short neck Decreased length of neck 0000470 Single[rarediseases.info.nih.gov]

    Missing: Brushfield Spot Overfolded Superior Helix
  • Postaxial Oligodactyly, Tetramelic

    transverse palmar crease 32 HP:0000954 9 radial bowing 32 HP:0002986 10 postaxial oligodactyly 32 HP:0006210 11 partial-complete absence of 5th phalanges 32 HP:0006209 12[malacards.org] transverse palmar crease Symptoms // Phenotype % cases Autosomal recessive inheritance Uncommon - Between 30% and 50% cases Bilateral single transverse palmar creases Uncommon[mendelian.co] transverse palmar crease Radial deviation of finger Broad hallux Cleft upper lip Gastrointestinal dysmotility Postnatal macrocephaly Microtia, first degree Branchial fistula[mendelian.co]

    Missing: Brushfield Spot Overfolded Superior Helix

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