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509 Possible Causes for Broad Nasal Bridge, Epicanthal Folds

  • Homocystinuria

    The patient also shows signs that had not been previously described: epicanthal folds, broad nasal bridge, long and flat philtrum, amimic expression and, particularly, a postural[ncbi.nlm.nih.gov] The patient also shows signs that had not been previously described: epicanthal folds, broad nasal bridge, long and flat philtrum, amimic expression and, particularly, a postural[ncbi.nlm.nih.gov]

  • Pallister-Killian Syndrome

    folds large ears with lobes that are thick and protrude outward.[en.wikibooks.org] PKS has the following characteristics: low muscle tone facial features that are common to the syndrome-high forehead, broad nasal bridge, wide space between the eyes sparse[pkskids.net] nasal bridge, hypotonia, streaks of hypo-hyperpigmentation.[fupress.net]

  • Down Syndrome

    folds, flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called also Down , Down's , trisomy[merriam-webster.com] In the postnatal period, characteristic phenotypical features point to the diagnosis: depressed nasal bridge epicanthic folds abundant neck skin macroglossia simian crease[radiopaedia.org] bridge, protruding tongue, high-arched palate, dental abnormalities, and a short and broad neck.[symptoma.com]

  • Smith-Magenis Syndrome

    folds, broad nasal bridge, downturned mouth with cupid's bow, ear anomalies, and relative prognathism, and ocular abnormalities); short stature; brachydactyly; a hoarse,[priory.com] The main clinical features of this syndrome which is also referred to as the Smith-Magenis syndrome consist of a broad flat midface with brachycephaly, broad nasal bridge,[ncbi.nlm.nih.gov] The common clinical findings were: speech delay with behavioural problems associated with broad flat midface, brachycephaly, broad nasal bridge and brachydactyly.[ncbi.nlm.nih.gov]

  • Peroxisomal Disease

    The clinical findings of the ZS are dysmorphic features (prominent forehead, hypertelorism, epicanthal folds, flat supraorbital ridges, broad nasal bridge, large fontanelles[neuropathology-web.org] These infants have a characteristic facial appearance, with a high forehead, epicanthal folds, a small nose with a broad nasal bridge, anteverted nares, and micrognathia ([obgynkey.com] Most children have some degree of facial characteristics such as a broad nasal bridge, low set ears, a large fontanelle (soft spot) and a high forehead (which in our humble[zellweger.org.uk]

  • Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

    folds.[ic.steadyhealth.com] nasal bridge), feeding difficulties, and liver dysfunction.[asperbio.com] folds, and broad nasal bridge), profound hypotonia and seizures.[orpha.net]

  • Cerebro-Facio-Thoracic Dysplasia

    Both affected individuals are members of the same family and have epicanthal folds and hypertelorism.[scinapse.io] nasal bridge, long philtrum, micrognathia, triangular-shaped mouth and low posterior hairline, and also brachycephaly, calcified clinoid ligaments, and upper rib deformities[ncbi.nlm.nih.gov] Differential Diagnosis [ edit ] Input criteria using London Dysmorphology Database: Hypertelorism; posteriorly rotated ears; epicanthic folds; developmental delay Output:[en.wikibooks.org]

  • Hypertelorism and Tetralogy of Fallot

    Symptoms via clinical synopsis from OMIM: 57 Head And Neck Eyes: hypertelorism epicanthal folds narrow palpebral fissures Head And Neck Face: long philtrum Genitourinary External[malacards.org] Pashayan: MR; truncal obesity, webbed neck, blepharophimosis Simple philtrum, thin upper lip, flat, broad nasal bridge, short stubby nasal tip, hypertelorism, developmental[en.wikibooks.org] The four patients (3 male sibs and a female cousin) demonstrated early cyanosis, feeding problems, hypertelorism, epicanthic folds, narrow palpebral fissures, flat nasal bridge[cags.org.ae]

  • Chromosome 17p13.1 Deletion Syndrome

    folds high-arched eyebrows Head And Neck Face: high forehead small chin recessed chin Skeletal Feet: long hallux broad hallux short feet Head And Neck Mouth: high-arched[malacards.org] nasal bridge and other facial dysmorphism.[epilepsydiagnosis.org] Nervous System: hydrocephalus sleep disturbances developmental delay, global speech, limited or nonverbal Head And Neck Eyes: strabismus downslanting palpebral fissures epicanthal[malacards.org]

  • Encephalomyopathic Mitochondrial DNA Depletion Syndrome

    Patients may display variable facial dysmorphia such as a narrow elongated face, protruding malformed ears, epicanthal folds and downslanting palpebral fissures of the eyes[cags.org.ae] nasal bridge and tip; and a long , smooth space between the upper lip and nose (philtrum).[ghr.nlm.nih.gov] […] mtDNA depletion syndrome have distinctive facial features that can include thick eyebrows; outside corners of the eyes that point upward (upslanting palpebral fissures ); a broad[chiarigear.com]

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