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32 Possible Causes for Brushfield Spot, Flat Facial Profile

  • Down Syndrome

    How Down Syndrome Affects Kids Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and[kidshealth.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] These include: A round face with a flat profile and small facial features (nose, mouth, ears, and eyes) Protruding tongue Almond-shaped upturned eyes with epicanthus folds[verywell.com]

  • High Myopia-Sensorineural Deafness Syndrome

    Characterized by flat facial profile, cleft palate, and severe hearing loss ...[ibis-birthdefects.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] Facial/craniofacial findings include the following characteristics 1 : Flat facial profile caused by underdevelopment of the nasal bridge and maxilla (upper jawbone), which[centogene.com]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Most have a flat facial profile (particularly flattening of the bridge of the nose), but some do not have obviously unusual physical characteristics at birth and then develop[merckmanuals.com] He appears jaundiced; he has a flat facial profile; epicanthal folds and upslanting palpebral fissures, flat nasal bridge, small mouth with protruding tongue, small, cupped[hawaii.edu] LH3 deficiency syndrome LH3 deficiency syndrome can manifest with a characteristic facies of shallow orbits, a small nose, down-turned mouth corners, a flat facial profile[nature.com]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    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] He appears jaundiced; he has a flat facial profile; epicanthal folds and upslanting palpebral fissures, flat nasal bridge, small mouth with protruding tongue, small, cupped[hawaii.edu] Will see epicanthal folds, simian crease, brushfield spots in eyes.[kumc.edu]

  • Autosomal Dominant Mental Retardation Type 21

    facial profile; upslanting palpebral fissures; small ears; in-curving fifth fingers; single transverse palmar creases Slow growth; congenital heart defect; thyroid dysfunction[aafp.org] ) spots overlying the iris of the eye.[diapedia.org] Will see epicanthal folds, simian crease, brushfield spots in eyes.[kumc.edu]

  • Monosomy 21q

    […] trisomy 21. mental retardation, flat facial profile, prominent epicanthal folds (folds in the medial corner of the eye), Simian crease in the palm of the hand, intestinal[quizlet.com] 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] spots (iris color) - (darks) id - Nystagmus - id - - - Flat nasal bridge(a) id Mouth permanently open - - - ND - Abnormal teeth - Protruding tongue (macroglossia) - - ND[publications.fondationlejeune.org]

  • Wolf-Hirschhorn Syndrome

    spots Males with Down syndrome are generally infertile .[pathophys.org] Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial[ncbi.nlm.nih.gov] 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]

  • SHORT Syndrome

    Kids and teens with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and a protruding tongue.[kidshealth.org] […] on the colored part of the eye (Brushfield spots) Physical development is often slower than normal.[medlineplus.gov] How Down Syndrome Affects Kids Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and[kidshealth.org]

  • HAIR-AN Syndrome

    The outer part of the iris might have light spots that are called Brushfield spots as shown in the picture bellow.[ellenstumbo.com] These may include a flat facial profile, almond shaped eyes with an upward slant, unusual eyelids (known as epicanthic folds ), a flat nasal bridge, a prominent tongue, small[medbroadcast.com]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu] spots, very small ears, high palate, conical canine teeth, hyperconcave toenails q21.12 q22.1 6199974, 3228144, 2194394, 1456281, 2301476, 15732063 patient 4 [6199974], case[chr7.org] He appears jaundiced; he has a flat facial profile; epicanthal folds and upslanting palpebral fissures, flat nasal bridge, small mouth with protruding tongue, small, cupped[hawaii.edu]

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