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14 Possible Causes for Brushfield Spots, Ear Deformity, Folded Helix

  • 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] Results: Ocular findings included nystagmus (29.2%), esotropia (26.1%), epiphora (21.5%), Brushfield spots (16.9%), lens opacities (12.3%), abnormalities of the retinal vessels[dx.doi.org] These spots occur in normal children but are far more frequent in Down's syndrome (trisomy 21).[medterms.com]

  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    (outer rim) of ear (over 90%) Incomplete folding of ears Chronic otitis media (ear infections) Hearing loss Mouth and speech [ edit ] Deeply grooved philtrum (top lip line[en.wikipedia.org] Clinical features are short stature, low-set ears and many minor skeletal deformities of which the commonest are pectus excavatum and cubitus valgus.[whonamedit.com] Brushfield spots (gray to white spots resembling grains of salt around the periphery of the iris) may be visible.[merckmanuals.com]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    The main distinctive facial features are: -hypertelorism -ptosis -epicanthal folds -downslanted palpebral fissures -broad, high forehead -Low-set, posteriorly rotated ears[flipper.diff.org] […] diaphragmatic hernia, pulmonary hypoplasia, imperforate anus, micropenis , bilateral cryptorchidism, cerebral ventricular dilation, camptodactyly, agenesis of sacrum , low-set ear[en.wikipedia.org] The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu]

  • Wolf Hirschhorn Syndrome

    […] tightly folded around proteins called histones.[medical-dictionary.thefreedictionary.com] […] features which include prominent glabella, hypertelorism, (‘Greek helmet appearance’) micrognathia, highly arched eyebrows, down-turned ‘carp’ mouth and simple, lobeless ears[academic.oup.com] spots Males with Down syndrome are generally infertile .[pathophys.org]

  • Partial Trisomy 21

    Brushfield spots may be observed in the iris.[symptoma.com] […] tightly folded around proteins called histones.[medical-dictionary.thefreedictionary.com] […] philtrum, an open mouth, thin upper vermilion and broad everted lower lip, low-set ears with prominent anthelix and deep concha, broad hands with simian creases, a short[ncbi.nlm.nih.gov]

  • Epicanthal Folds

    […] and small ears with overfolded upper helix.[hawaii.edu] […] shape (see earlobes ), body shape Body deformations, mutilations and other variations such as amputations , scars , burns and wounds .[en.wikipedia.org] The pupil also demonstrate a light smudgy opacity called a Brushfield spot. A simian crease is seen on the hand of this child with Down syndrome.[medgen.genetics.utah.edu]

  • Hirschsprung Disease - Nail Hypoplasia - Dysmorphism

    Down syndrome 46. 02/25/15 Sid 46 Trisomy 21 • Brachycephaly • Flat facial profile • Small ears • Folded helix • Conductive hearing loss • Upslanting palpebral fissures •[slideshare.net] Brain anomalies, retarda-tion of mentality and growth, ectodermal dysplasia, skeletal alformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft[indianpediatrics.net] Speckled iris (Brushfield spots), refractive errors, strabismus, nystagmus, and cataract. Ears.[consultant360.com]

  • Thumb Deformity - Alopecia - Pigmentation Anomaly Syndrome

    , refractory errors EARS: low-set, posteriorly rotated, thick helix, COM NOSE: small upturned - Cardiac: PS (50%), ASD/VSD, Cardiomyopathy - Genital: undescended testes -[quizlet.com] Ears, and Other Abnormalities Thumb Deformity and Alopecia Trichodental Dysplasia Trichodentoosseous Syndrome Trichoodontoonychial Dysplasia with Bone Deficiency Trichorhinophalangeal[nfed.org] […] with narrow or absent ear canals and/or deformed middle ears, cervical fusion occurs in about 18% of the cases.[craniokids.co.za]

  • Syndromic Microphthalmia 11

    , refractory errors EARS: low-set, posteriorly rotated, thick helix, COM NOSE: small upturned - Cardiac: PS (50%), ASD/VSD, Cardiomyopathy - Genital: undescended testes -[quizlet.com] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q11- Anophthalmos[icd10data.com] […] and small ears with overfolded upper helix.[hawaii.edu]

  • Absence or Deformity of Leg- Cataract Syndrome

    , refractory errors EARS: low-set, posteriorly rotated, thick helix, COM NOSE: small upturned - Cardiac: PS (50%), ASD/VSD, Cardiomyopathy - Genital: undescended testes -[quizlet.com] On the face there was a glabellar hemangioma, very narrow anterior fontanelle, low set ears, deviated and deformed nasal septum, bilateral cleft lip with cleft palate, prominent[jpma.org.pk] ) 107 Reduction Deformity Upper Limb 105 Manic Depression 103 Swollen/Or Bleeding Gums 102 Changes In Skin Color 102 In Utero Growth Retardation 101 Endometriosis 99 Thrush[birthdefects.org]

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