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26 Possible Causes for Downslanting Palpebral Fissures, Large Anterior Fontanels, Long Lashes

  • Rubinstein-Taybi Syndrome

    anterior fontanelle (41%), microcephaly (35%), Small mouth, persistent fetal finger pads (31%), duplicated longitudinal bracketed epiphysis (kissing delta phalanx), syndactyly[faoj.org] 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] lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[genedx.com]

  • Autosomal-Recessive Robinow Syndrome

    Symptoms - Robinow syndrome- autosomal recessive * Vertebral anomalies * Short stature * Large head * Large anterior fontanel * Frontal bossing Causes - Robinow syndrome-[checkorphan.org] palpebral fissures ; Duplication of the distal phalanx of hand ; Flat face ; Frontal bossing ; Gingival overgrowth ; Global developmental delay ; Hydronephrosis ; Hypertelorism[mousephenotype.org] […] philtrum - Long / thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly[csbg.cnb.csic.es]

  • Acrootoocular Syndrome

    Patients with mutations in HDAC8 have some atypical features including large anterior fontanel, broader nasal root, hooded eyelids and a pleasant personality [ 188 ].[entokey.com] Clinical description Facial dysmorphism is characterized by small head, downslanting palpebral fissures, broad base of the nose, micrognathia and malformed ears.[orpha.net] palpebral fissures ; Epicanthus ; Failure to thrive ; Finger syndactyly ; Growth hormone deficiency ; Hearing impairment ; High palate ; Hypotelorism ; Increased number of[mousephenotype.org]

  • Wiedemann-Steiner Syndrome

    fontanel Large fontanelles Disproportionate tall stature Poor head control Hypoplasia of the brainstem Amenorrhea Bone marrow hypocellularity Tubular atrophy Beaking of vertebral[mendelian.co] 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] 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

    […] open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay[orpha.net] 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]

  • 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] At 4 years old, he presented with a large anterior fontanelle, low-set ears, bushy eyebrows, synophrys, shallow orbit, mild proptosis, hypertelorism, flat nasal bridge, micrognathia[freethesaurus.com] 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]

  • Lytic Bone Lesion

    CraniofaciM skeleton Persistent wide cranial sutures Large anterior fontanelle Multiple Wormian bones Dolichocephaly Progressive basilar invagination Occipital prominence[docslide.net] palpebral fissures / anti-mongoloid slanting palpebral fissures - Facial dysmorphism - Hypertelorism - Long philtrum - Micrognathia / retrognathia / micrognathism / retrognathism[csbg.cnb.csic.es] 80%-99% of people have these symptoms Brachydactyly Short fingers or toes 0001156 Decreased skull ossification Decreased bone formation of skull 0004331 Downslanted palpebral[rarediseases.info.nih.gov]

  • Eyebrow Duplication - Syndactyly Syndrome

    […] arteriosus, pulmonary insufficiency, large anterior fontanel, minor facial anomalies, postaxial polydactyly, developmental delay q11.1 2225528, 7702099, 10494083 case 3 ([chr7.org] […] course, the bushy eyebrows and long lashes (in 98%).[disorders.eyes.arizona.edu] anterior fontanelle (41%), microcephaly (35%), Small mouth, persistent fetal finger pads (31%), duplicated longitudinal bracketed epiphysis (kissing delta phalanx), syndactyly[faoj.org]

  • Cornelia De Lange Syndrome

    Distinctive features in affected individuals in addition to those of CdLS include a large anterior fontanel, widely spaced eyes (also known as orbital hypertelorism) and happy[nature.com] palpebral fissures, and downturned corners of the mouth.[aadmd.org] […] course, the bushy eyebrows and long lashes (in 98%).[disorders.eyes.arizona.edu]

  • Blepharofacioskeletal Syndrome

    He had downslanting palpebral fissures, epicanthic folds, bilateral microtia, a small tongue and full lips, a small palate with broad gums and irregular teeth ( Figure 1d[nature.com] TRICHOMEGALY (LONG LASHES) 1. Associated with cataract and hereditary spherocytosis 2.[dentisty.org] His anterior fontanelle was large. He had bilateral microtia ( Figure 1k ). He also had hypospadias and a sacral dimple.[nature.com]

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