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26 Possible Causes for Broad Nasal Bridge, Microcephaly, Wide Space Between the First and Second Toe

  • Down Syndrome

    RESULTS: Microarray detected an intragenic microdeletion of DYRK1A in an individual with microcephaly and autism.[ncbi.nlm.nih.gov] bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called also trisomy 21 First Known Use of Down syndrome[merriam-webster.com] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org]

  • Dubowitz Syndrome

    A small head, often with a receding forehead, large ears and nose is often an associated feature of other disorders, rarely occurring in isolation.[web.archive.org] nasal bridge, dysplastic auricles, and retrognathia, is presented.[ncbi.nlm.nih.gov] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Ring Chromosome 10

    Their common features were mental and growth retardation, low birth weight, microcephaly, stubby nose, hypertelorism, strabismus, wide set nipples, single transverse palmar[ncbi.nlm.nih.gov] bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose[rarediseases.info.nih.gov] We report here on a child with a ring chromosome 10, which is associated with prenatal and postnatal growth retardation, microcephaly, dysmorphic features, hypotonia, heart[epublications.vu.lt]

  • Baraitser Syndrome

    The most common symptoms are sparse hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, unusually short fingers and toes[thinkgenetic.com] nasal bridge, and epicanthic folds.[pediatricneurosciences.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Craniofrontonasal Dysplasia

    bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose[rarediseases.info.nih.gov] Clinodactyly of the 5th finger Cognitive impairment Facial asymmetry Finger syndactyly Hand polydactyly High anterior hairline Joint hypermobility Low posterior hairline Microcephaly[familydiagnosis.com] […] and broad nasal bridge.[mjdrdypu.org]

  • Short Stature due to Endocrine Disorder

    Clinical description Addition clinical features include microcephaly, adiposity, and insulin resistance.[orpha.net] bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose[rarediseases.info.nih.gov] Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Prelingual sensorineural[rarediseases.info.nih.gov]

  • Cutis Laxa

    Our observation increases the number of cases with fibulin-4 mutations to three and extends the phenotypic spectrum of fibulin-4 mutations by microcephaly, overgrowth and[ncbi.nlm.nih.gov] nasal bridge Large forehead Wideset eyes Anterverted nares (upturned nose) Low-set ears The photograph at the top right of this page shows a young child with cutis laxa type[forgottendiseases.org] Other reported osteoarticular features are: a wide space between the first and second toes; talipes equinovarus; metatarsus adductus; genu recurvatum or genu valgum; flat[scielo.br]

  • Atelosteogenesis Type 2

    This includes the following conditions: Pseudoachondroplasia MED (types 1, 2, 3, 5, 6 and other types) Stickler syndrome (recessive type) Familial hip dysplasia MED with microcephaly[emedicine.medscape.com] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[thehealthscience.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Kleiner Holmes Syndrome

    bridge; Choanal stenosis or atresia; Strabismus; Narrow palate; Cleft palate; Bifid uvula; Malocclusion; Delayed dental eruption; Ventricular septal defect; Overriding aorta[panelapp.genomicsengland.co.uk] Fusion Anomalies Microcephaly Deafness Syndrome Microcephaly Microphthalmos Blindness Microcephaly Nonsyndromal Microcephaly Pontocerebellar Hypoplasia Dyskinesia Microcephaly[rgd.mcw.edu] […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Widely spaced 1st-2nd toes Widely spaced first and second toes[rarediseases.info.nih.gov]

  • Genee-Wiedemann Syndrome

    Clinical: Clefts and fibroma of tongue; polydactylia; broad nasal bridge; narrow-arched palate ; short humerus, femur, and tibia; irregular teeth; hypotonia; mental retardation[dentisty.org] Reynolds, Postaxial acrofacial dysostosis syndrome with microcephaly, seizures and profound mental retardation, American Journal of Medical Genetics, 31, 3, (701-703), (2005[doi.org] He had a wide space between the first and second toe of his feet and subungual fibroma on the second and third toe of the right foot and on the third toe of the left foot.[jmg.bmj.com]

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