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39 Possible Causes for Bulbous Nose, Downslanting Palpebral Fissures, Long Lashes

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    fissure Micropenis Low-set ears Syndactyly Pica Nail dystrophy Nail dysplasia Microdontia Scoliosis Anteverted nares Micrognathia Downslanted palpebral fissures Intellectual[mendelian.co] Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with[orpha.net] Upturned nostrils [ more ] 0000463 Autosomal dominant inheritance 0000006 Blepharophimosis Narrow opening between the eyelids 0000581 Bulbous nose 0000414 Clinodactyly of[rarediseases.info.nih.gov]

  • Wiedemann-Steiner Syndrome

    palpebral fissures Downward slanting of the opening between the eyelids 0000494 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Failure to thrive Faltering weight[rarediseases.info.nih.gov] nose, long smooth philtrum and thin vermilion borders.[mendelian.co] Affected individuals had long lashes, wide-set eyes, arched brows, a long philtrum (the space between the nose and the upper lip), short nose, low-set ears and a high palate[geneticliteracyproject.org]

  • Acrootoocular Syndrome

    Clinical description Facial dysmorphism is characterized by small head, downslanting palpebral fissures, broad base of the nose, micrognathia and malformed ears.[orpha.net] Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet Triple X Syndrome triple-A syndrome Trisomy 18-Like Syndrome Trisomy 22 Mosaicism Syndrome Trueb Burg Bottani[rgd.mcw.edu] Ophthalmological Manifestations Synophrys and long eye lashes although not specific, are seen in over 95 % of children with CdLS.[entokey.com]

  • Acrorenal Mandibular Syndrome

    palpebral fissures epicanthal folds Head And Neck Head: scaphocephaly Growth Other: intrauterine growth retardation (iugr) Cardiovascular Vascular: aberrant origin vertebral[malacards.org] […] without anorectal and renal anomalies Holzgreve syndrome Hemochromatosis type 2 Leisti Hollister Rimoin syndrome Congenital mirror movement disorder Trigonobrachycephaly, bulbous[checkrare.com] […] eye lashes, long philtrum, low-set ears, short upturned nose, thin downturned lips OTHER: developmental delay (severe speech delay mild-moderate MR), seizures (23%), congenital[quizlet.com]

  • Progeroid Syndrome Type Petty

    palpebral fissures Downward slanting of the opening between the eyelids 0000494 High, narrow palate Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth[rarediseases.info.nih.gov] nose Thin calvarium Agenesis of corpus callosum Upslanted palpebral fissure Brachycephaly Sporadic Blepharophimosis Craniosynostosis Small for gestational age Astigmatism[mendelian.co] lashes * Loose skin * Large fontanel * Low set ears * Poor skull calcification * Protruding jaw * Prematurely aged face * Short stature * Small face * Underdeveloped end[checkorphan.org]

  • Gingival Fibromatosis-Hypertrichosis Syndrome

    The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly[mendelian.co] […] her infant son, likely had this syndrome. 0000684 EEG abnormality 0002353 Gingival overgrowth Gum enlargement 0000212 5%-29% of people have these symptoms Ataxia 0001251 Bulbous[rarediseases.info.nih.gov] […] eye lashes.[jisppd.com]

  • Warburg Micro Syndrome 3

    palpebral fissures - dental malocclusion - growth retardation - respiratory disorders during sleep (80 %): especially obstructive and non-obstructive apneas - disorders of[sites.uclouvain.be] Clinical features also included microcephaly, frontal hypertrichosis, sparse and up-slanted eyebrows, hypotelorism, short palpebral fissures, bulbous nose, arched palate,[omicsonline.org] lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[genedx.com]

  • Amaurosis-Hypertrichosis Syndrome

    palpebral fissures Epicanthus Abnormality of the tongue Need help with a diagnosis?[mendelian.co] Terminal hair, the third type, is on the scalp and forms the eyebrows and lashes.[blogs.plos.org] nose.[ijtrichology.com]

  • Eyebrow Duplication - Syndactyly Syndrome

    palpebral fissures, pale highly arched eyebrows, distinct mouth with thin lips and downturned corners, high narrow palate, micrognathia, broad nasal bridge, low-set ears,[chr7.org] The 3 patients share several features, such as developmental delay, obesity, hernia, rounded face with full cheeks, epicanthal folds, short palpebral fissures, bulbous nose[diva-portal.org] […] course, the bushy eyebrows and long lashes (in 98%).[disorders.eyes.arizona.edu]

  • Short Palpebral Fissure

    Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Downslanted palpebral fissures and Brain atrophy, related[mendelian.co] Most affected people also experience eye problems, varying from colobomata of the lower eyelids and aplasia of lid lashes to short, down-slanting palpebral fissures , and[eng.ichacha.net] His neuromotor development was normal and hypertelorism, downslanting palpebral fissures , hypoplasia of right auricle, hypoplasia of the maxillary bones and narrow forehead[freethesaurus.com]

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