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23 Possible Causes for Broad Nasal Bridge, Nystagmus, Wide Space Between the First and Second Toe

  • Down Syndrome

    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] Nystagmus was related to myopia and esotropia, and to heart disease and heart operations.[oadoi.org]

  • Dubowitz Syndrome

    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] […] teeth Dry skin High palate Hydrocephalus Hydronephrosis Hypoparathyroidism Hypoplastic toenails Joint hyperflexibility Lymphoma Malabsorption Metatarsus adductus Myopia Nystagmus[dovemed.com]

  • 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] Cryptorchidism Down-sloping shoulders Exotropia Fragile nails Hemihypotrophy of lower limb Hypoplasia of the corpus callosum Hypoplastic nasal tip Hypospadias Joint laxity Nystagmus[familydiagnosis.com] Nystagmus was also a common finding (9/22 patients): four had congenital nystagmus and four had latent nystagmus.[nature.com]

  • Familial Congenital Nasolacrimal Duct Obstruction

    […] flat nasal bridge, malformed ears, and short neck.[genome.jp] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] […] cataract-dental syndrome, cataract, x-linked, with hutchinsonian teeth, mesiodens-cataract syndrome; Related symptoms: Intellectual disability Global developmental delay Nystagmus[mendelian.co]

  • Atelosteogenesis Type 2

    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] […] following conditions: Pseudoachondroplasia MED (types 1, 2, 3, 5, 6 and other types) Stickler syndrome (recessive type) Familial hip dysplasia MED with microcephaly and nystagmus[emedicine.medscape.com]

  • Baraitser Syndrome

    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] In some cases, affected individuals may have droopy upper eyelids (ptosis), rapid, involuntary eye movements (nystagmus), and abnormalities of the thin membrane that lines[rarediseases.org]

  • 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] […] 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] Paraplegia Epilepsy Mental Retardation Spastic Paraplegia with Kallmann Syndrome Spastic Paraplegia, Ataxia, and Mental Retardation SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS[rgd.mcw.edu]

  • Cutis Laxa

    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] He was later diagnosed with nystagmus and central corneal opacities. At age 8 years, his height was 96 cm (Z 5.8) and weight was 11.6 kg (Z 7.26).[nature.com]

  • Weaver Syndrome

    nasal bridge, accentuated philtrum, micrognathia and large ears, and unique behavior characteristics with some social withdrawal.[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] […] disorders High arched palate Glucose intolerance Advanced bone age Hyperbilirubinemia Prominent forehead Learning disabilities Developmental delay Autonomic dysfunction Nystagmus[sotossyndrome.co.uk]

  • 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] 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] Absent optic chiasm presenting with horizontal nystagmus. J Pediatr Ophthalmol Strabismus 2010 May-Jun;47(3):187-91.[humangenetik-freiburg.de]

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