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24 Possible Causes for Broad Nasal Bridge, Skeletal Dysplasia, 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] Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.medscape.com] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org]

  • Dubowitz Syndrome

    nasal bridge, dysplastic auricles, and retrognathia, is presented.[ncbi.nlm.nih.gov] 22q11.2 deletion syndrome Thanatophoric dysplasia type 2 Familial partial lipodystrophy Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia[checkrare.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]

  • 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] […] chest, ocular hypertelorism, flat nasal bridge, micrognathia, and cleft palate.[scielo.br]

  • Greenberg Dysplasia

    […] palm Broad hand Broad hands Wide palm [ more ] 0001169 Cardiomegaly Enlarged heart Increased heart size [ more ] 0001640 Cystic hygroma 0000476 Depressed nasal bridge Depressed[rarediseases.info.nih.gov] Greenberg skeletal dysplasia is a very rare, autosomal recessive, in utero, lethal chondrodystrophy for which only eight index cases of diverse ethnic origin have been reported[ncbi.nlm.nih.gov] These findings further delineate the spectrum of this rare autosomal recessive skeletal dysplasia.[ncbi.nlm.nih.gov]

  • Atelosteogenesis

    The patient had multiple craniofacial abnormalities at birth, including ocular hypertelorism, a flat nasal bridge, micrognathia and a cleft palate.[ncbi.nlm.nih.gov] This could be a unique skeletal dysplasia or the most severe end of the atelosteogenesis spectrum.[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]

  • 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] […] this panel Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel By Blueprint Genetics in Finland.[mendelian.co] […] and broad nasal bridge.[mjdrdypu.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] Skeletal dysplasias. In: McAteer M, editor. Taybi and Lachman's radiology of syndromes, metabolic disorders, and skeletal dysplasias. 5 th ed.[ijri.org] […] 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]

  • Short Stature - Wormian Bones - Dextrocardia Syndrome

    In our body, the facial features of Floating-Harbor syndrome include a triangular-shaped face, a prominent bulbous nose with a broad nasal bridge, a wide columella, deeply[wellnessadvocate.com] Sjogren's syndrome Skeletal dysplasia brachydactyly[?] Skeletal dysplasia epilepsy short stature[?] Skeletal dysplasia orofacial anomalies[?][encyclopedia.kids.net.au] Wide spacing between first and second toes ( Matthews and Robin, 2011 ). 3. Skin. a. Short neck with excess nuchal skin. C. Associated findings. 1. Prematurity. 2.[nursekey.com]

  • 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] In the neonatal period, brachydactyly and facial dysmorphism are two early distinctive signs, later followed by intellectual disability and hyperostotic skeletal dysplasia[ncbi.nlm.nih.gov] 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]

  • Adactyly of Foot

    Cri du Chat ( 5p-) Clinical Presentation 1:50,000 Hypertelorism Broad nasal bridge Cleft lip /- palate Severe MR 65% Seizures 50-100% Heart defects 50% 1:20,000 to 1:50,000[quizlet.com] The prevalence of skeletal dysplasias ranges from 2.3 to 7.6 per 10,000 births and approximately 1.5 per 10,000 births for lethal skeletal dysplasias ( 13, 14 and 15 ).[musculoskeletalkey.com] , flat nasal bridge; and widely spaced eyes (hypertelorism).Abnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome[ncbi.nlm.nih.gov]

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