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40 Possible Causes for Beaked Nose, Downslanting Palpebral Fissures, Long Lashes

  • Rubinstein-Taybi Syndrome

    She has developmental delay and other features of RSTS including downslanting palpebral fissures, a prominent nose with the nasal septum extending below the alae nasi, broad[ncbi.nlm.nih.gov] A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad[ncbi.nlm.nih.gov] lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[genedx.com]

  • Hallermann-Streiff Syndrome

    The ophthalmologic exam revealed microphthalmia, iris atrophy, blue sclera, microcorneea, aphakia, downslanting palpebral fissures, bilateral upper eyelid entropion, pendular[iovs.arvojournals.org] The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy[ncbi.nlm.nih.gov] Characteristic changes in the bones of the skull and the long bones of the arms and legs can usually be seen on x ray.[encyclopedia.com]

  • Cerebro-Facio-Thoracic Dysplasia

    , syndactyly of toes Ritscher-Schinzel: Dandy-Walker malformation of the brain; atrioventricular septal defect Hypertelorism, downslanting palpebral fissures, low-set ears[en.wikibooks.org] nose with or without nasal septum extending below alae nasi (100%), thumbs are broad, occasionally bifid, cardiac defects in 25%, broad great toes in 100%, ear infections[en.wikibooks.org] Pterygium colli-mental retardation-digital anomalies Pterygium colli, ptosis, upslanting palpebral fissures, hypertelorism, broad nasal base and bridge, epicanthus inversus[en.wikibooks.org]

  • 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] External anomalies were low-set ears, beaked nose, micrognathia (Fig. la), bilateral varus deformity, left claw foot having two toes, cleft between two toes, till metatarsal[archive.org] […] 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]

  • 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] It is characterized by microphthalmia, brachycephaly with frontal bossing, micrognathia and beaked nose.[bredagenetics.com] Ophthalmological Manifestations Synophrys and long eye lashes although not specific, are seen in over 95 % of children with CdLS.[entokey.com]

  • 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] Bilateral ptosis Cervical platyspondyly Mandibular prognathia Anterior beaking of thoracic vertebrae Camptodactyly Pachygyria Decreased fetal movement Nephropathy Paraplegia[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]

  • 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] lashes * Loose skin * Large fontanel * Low set ears * Poor skull calcification * Protruding jaw * Prematurely aged face * Short stature * Small face * Underdeveloped end[checkorphan.org] palpebral fissures ; Everted lower lip vermilion ; Failure to thrive ; Feeding difficulties ; Gastroesophageal reflux ; Generalized hypotonia ; Heterotopia ; High, narrow[mousephenotype.org]

  • 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] All had severe mental retardation and other findings, such as hypertrichosis, beaked nose with prominent nasal root, short philtrum, and prominent ears.[iamg.in] lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[genedx.com]

  • Congenital Mandibular Hypoplasia

    palpebral fissures) Can have congenital heart defect (esp PDA) AR inheritance of Ch15 causing DNA fragility Feats: - short stature - telangiectatic erythema of the face ([quizlet.com] The nose is beaked downwards at its tip. In severe cases, patients have thinning of the subcutaneous tissue from the angles of the mouth up to the lateral canthus.[emedicine.medscape.com] nose May have congenital heart defects (PDA or CoA) Short humerus/femurs, therefore shorter limbs 1 in 100,000 AD inheritance from mutations in FGFR1 and FGFR2 genes FACE[quizlet.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] These include anti-mongoloid slant of eyes, heavy eye brows, low set ears and beaked nose.[faoj.org] […] course, the bushy eyebrows and long lashes (in 98%).[disorders.eyes.arizona.edu]

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