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179 Possible Causes for Brushfield Spot, Craniosynostosis

  • Down Syndrome

    Boyadjiev, Genetic advances in craniosynostosis, American Journal of Medical Genetics Part A, 173, 5, (1406-1429), (2017) ., Practice Bulletin No. 187, Obstetrics & Gynecology[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] 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]

  • Oculopalatoskeletal Syndrome

    Definition A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal[uniprot.org] spots Fraser’s syndrome (219000) Cryptophthalmos, malformed lacrimal ducts, hypertelorism, blindness Glucose transport defect (606777) Abnormal paroxysmal eye movements;[clinicalgate.com] Michels syndrome is characterized by cleft lip and palate, anterior chamber anomalies, blepharophimosis, epicanthus inversus, and craniosynostosis.[ncbi.nlm.nih.gov]

  • Craniosynostosis Type 3

    Etiology of Craniosynostosis The etiology of nonsyndromic craniosynostosis is unknown, and the condition is sporadic in most instances.[aafp.org] 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] "Types of Craniosynostosis". Craniosynostosis Surgery in South Texas. "What is Craniosynostosis?".[en.wikipedia.org]

  • Smith-Magenis Syndrome

    Gorlin, Craniosynostosis update 1987, American Journal of Medical Genetics, 31, S4, (99-148), (2005).[oadoi.org] 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]

  • Hypertelorism

    In addition we emphasize the findings of aortic root dilation and craniosynostosis in these patients, which should be considered in their management.[ncbi.nlm.nih.gov] Down21 - non-disjunction causing trisomy 21; or Robertsonian translocation (14;21)Epicanthic folds; flat nasal bridge; protruding tongue; Brushfield spots; increased space[dontforgetthebubbles.com] Hypertelorism was mostly attributable to craniofacial cleft, craniosynostosis, frontoethmoidal meningoencephalocele, frontonasal fibrous dysplasia, and trauma.[ncbi.nlm.nih.gov]

  • Cerebellotrigeminal Dermal Dysplasia

    This boy was evaluated shortly after birth because of suspected craniosynostosis.[ncbi.nlm.nih.gov] spots Renal cortical microcysts Optic nerve dysplasia Generalized neonatal hypotonia Palpebral edema Camptodactyly Epiphyseal stippling Metatarsus adductus Cubitus valgus[mendelian.co] Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment[orpha.net]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    Further evidence that extra copy of MSX2 gene leads to craniosynostosis.[bmcmedgenet.biomedcentral.com] 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]

  • Congenital Mandibular Hypoplasia

    Patient with bicoronal craniosynostosis.[emedicine.medscape.com] spots), 3 fontanelles with delayed closure, midface hypoplasia, mild microcephaly, short hard palate, small nose with flat nasal bridge, protruding tongue MSK - short metacarpals[quizlet.com] Patients can be seen by Texas Children's experts in Craniofacial and Craniosynostosis Clinic .[texaschildrens.org]

  • Acrootoocular Syndrome

    Apert syndrome (Medical Encyclopedia) Cleidocranial dysostosis (Medical Encyclopedia) Craniosynostosis (Medical Encyclopedia) Craniosynostosis repair (Medical Encyclopedia[icdlist.com] spots, upslanting palpebral fissures, epicanthal folds/Most cases not inherited /Trisomy 21 (most cases), translocation, mosaic /#190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[eyewiki.org] Pasteur CIPSO Chronic Intestinal Pseudo-obstruction CRIP Cysteine-rich Intestinal Protein CSB Congenital Short Bowel CSB Contaminated Small Bowel CSB Contaminated Small Bowel; Craniosynostosis[medicabbreviations.com]

  • Bencze Syndrome

    Cohen (1973) provided a review of all the 'craniosynostosis syndromes.'[mendelian.co] Ocular: Optic atrophy; deficiency of choroidal pigment ; lightly colored irides; Brushfield spots; retinal pigment epithelium abnormalities; heterotropia; blindness.[dentisty.org] Ocular Anomalies Cataract 2, Multiple Types Cataract 9, Multiple Types Chediak-Higashi Syndrome Classic Homocystinuria Cognitive Impairment With Or Without Cerebellar Ataxia Craniosynostosis[familydiagnosis.com]

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