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16 Possible Causes for Brushfield Spot, Prominent Ventricles, Short Broad Feet

  • Craniosynostosis Type 3

    Ring of iris speckles - Brushfield's spots. Ears set low, folded or stenotic meatus. Flat nasal bridge. Mouth: Protruding tongue (small narrow palate).[patient.info] They have black to dark brown skin, broad short noses, wooly black hair, and dark irises. Adult males are less than 5 feet tall and females are shorter still.[internetlooks.com] Saethre–Chotzen syndrome : short or broad head. the eyes may be spaced wide apart and have palpebral ptosis (droopy eyelids), and fingers may be abnormally short and webbed[en.wikipedia.org]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    […] with cortical atrophy, peculiar cry, nystagmus, seizures; prominent occiput, microcephaly, abnormal ears, cutis marmorata (marbled skin), narrowly arched palate, micrognathia[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

    […] with cortical atrophy, peculiar cry, nystagmus, seizures; prominent occiput, microcephaly, abnormal ears, cutis marmorata (marbled skin), narrowly arched palate, micrognathia[chr7.org] The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu] The forehead is prominent while the hard palate is usually highly vaulted.[disorders.eyes.arizona.edu]

  • Trisomy 9

    […] in this paragraph, with increased prominence of the back region of the head (occiput), and/or additional associated anomalies.[rarediseases.org] Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, brushfield spots on the iris, protruding tongue, small[icd9data.com] , short neck, overlapping fingers, rocker-bottom feet, prominent heels, and hypoplastic toenails.[ncbi.nlm.nih.gov]

  • SHORT Syndrome

    Human atrial I K1 has been reported to show weaker rectification than its ventricular counterpart [ 45 ], suggesting the possibility of a more prominent than in ventricle[journals.plos.org] […] on the colored part of the eye (Brushfield spots) Physical development is often slower than normal.[medlineplus.gov] […] and broad hands, short fifth fingers with clinodactyly, and a shawl scrotum.[jmgims.co.in]

  • Colobomatous Microphthalmia - Rhizomelic Dysplasia Syndrome

    […] with cortical atrophy, peculiar cry, nystagmus, seizures; prominent occiput, microcephaly, abnormal ears, cutis marmorata (marbled skin), narrowly arched palate, micrognathia[chr7.org] spots Fraser’s syndrome (219000) Cryptophthalmos, malformed lacrimal ducts, hypertelorism, blindness Glucose transport defect (606777) Abnormal paroxysmal eye movements;[clinicalgate.com] Short limbs with acrodysostosis. Epiphyses are cone shaped. Short, broad hands, feet, fingers, and toes. Short metatarsals. GI/GU : Rare renal anomalies. Cryptorchidism.[aneskey.com]

  • Macrocephaly-Developmental Delay Syndrome

    (d) bilateral syndactyly of 2 nd and 3 rd toe Click here to view Magnetic resonance imaging brain was done, which shows prominent ventricles with rounding over frontal and[ijpd.in] 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] 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]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    […] with cortical atrophy, peculiar cry, nystagmus, seizures; prominent occiput, microcephaly, abnormal ears, cutis marmorata (marbled skin), narrowly arched palate, micrognathia[chr7.org] Will see epicanthal folds, simian crease, brushfield spots in eyes.[kumc.edu] Macrocephaly Hypertelorism Down-slanting palpebral fissure Mild to moderate mental retardation TURNER SYNDROME- Short Stature Webbed neck Broad chest with wide-spaced nipples[paediatricks.com]

  • Hypertelorism and Tetralogy of Fallot

    […] with cortical atrophy, peculiar cry, nystagmus, seizures; prominent occiput, microcephaly, abnormal ears, cutis marmorata (marbled skin), narrowly arched palate, micrognathia[chr7.org] Down21 - non-disjunction causing trisomy 21; or Robertsonian translocation (14;21)Epicanthic folds; flat nasal bridge; protruding tongue; Brushfield spots; increased space[dontforgetthebubbles.com] […] 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]

  • Cortical Blindness-Intellectual Disability-Polydactyly Syndrome

    The fourth ventricle is usually enlarged while the cerebellar hemispheres may be hypoplastic. The facies features are said to be distinctive in older individuals.[disorders.eyes.arizona.edu] spots in the iris 56% Flexible ligaments 75% Single transverse palmar crease 53% Large tongue 75% Protruding tongue 47% Abnormal outer ears 70% Congenital heart disease 40%[slideshare.net] Short limbs with acrodysostosis. Epiphyses are cone shaped. Short, broad hands, feet, fingers, and toes. Short metatarsals. GI/GU : Rare renal anomalies. Cryptorchidism.[aneskey.com]

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