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45 Possible Causes for Downslanting Palpebral Fissures, Long Lashes, Polyhydramnios

  • 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[] […] forehead Decreased width of the forehead 0000341 Neonatal hypotonia Low muscle tone, in neonatal onset 0001319 Poliosis Patch of white hair White patch [ more ] 0002290 Polyhydramnios[] .Table 1Seven reported cases of cerebrofaciothoracic dysplasiaClinical features Pascual-Castroviejo Philip Guion-Almeida Present reportHigh birth weight 2 2Consanguinity Polyhydramnios[]

  • 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[] lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[] Capillary hemangioma Strawberry birthmark 0005306 Finger syndactyly 0006101 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hip dysplasia 0001385 Keloids 0010562 Polyhydramnios[]

  • 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[] 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[] Decreased fetal movement Flexion contracture Generalized muscle weakness Pain Myopia Arthrogryposis multiplex congenita Difficulty walking Facial palsy Myopathic facies Polyhydramnios[]

  • Acrootoocular Syndrome

    Clinical description Facial dysmorphism is characterized by small head, downslanting palpebral fissures, broad base of the nose, micrognathia and malformed ears.[] Ophthalmological Manifestations Synophrys and long eye lashes although not specific, are seen in over 95 % of children with CdLS.[] Temporal bone evaluation can reveal ossicular chain abnormalities. 44 Prenatal detection of polyhydramnios and micrognathia with a family history of Stickler syndrome should[]

  • Acrorenal Mandibular Syndrome

    palpebral fissures epicanthal folds Head And Neck Head: scaphocephaly Growth Other: intrauterine growth retardation (iugr) Cardiovascular Vascular: aberrant origin vertebral[] […] 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[] Kyphoscoliosis Macrotia Gait ataxia Acidosis Abnormal vertebral morphology Type I diabetes mellitus Tremor Prominent superficial veins Microtia Abnormality of the pinna Polyhydramnios[]

  • 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[] palpebral fissures 3/6 7/9 - Epicanthi 5/7 2/9 Dysmorphic nose 6/6 6/9 High arched palate 5/6 3/9 - - Abnormal ears 2/6 7/9 Micrognathia 3/6 8/9 - Congenital heart defect[] Facial characteristics included a prominent forehead, up-swept frontal hairline, downslanting palpebral fissures, ocularhypertelorism, and small prominent ears with a simplified[]

  • 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[] lashes * Loose skin * Large fontanel * Low set ears * Poor skull calcification * Protruding jaw * Prematurely aged face * Short stature * Small face * Underdeveloped end[] […] behavior Large hands Reduced subcutaneous adipose tissue Autism Growth delay Abnormal facial shape Feeding difficulties Redundant skin Frontal bossing Abdominal distention Polyhydramnios[]

  • Cornelia De Lange Syndrome

    palpebral fissures, and downturned corners of the mouth.[] […] course, the bushy eyebrows and long lashes (in 98%).[] […] year-old pregnant woman (gravida 1, para 0) was referred to our Fetal Medicine Department during her 33rd week of gestation due to intrauterine growth restriction (IUGR) and polyhydramnios[]

  • 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[] […] eye lashes.[] palpebral fissures Downward slanting of the opening between the eyelids 0000494 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Seizures Seizure 0001250 Synophrys[]

  • 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[] 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[] His neuromotor development was normal and hypertelorism, downslanting palpebral fissures , hypoplasia of right auricle, hypoplasia of the maxillary bones and narrow forehead[]

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