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22 Possible Causes for Downslanting Palpebral Fissures, Long Lashes, Sacral Dimple

  • Wiedemann-Steiner Syndrome

    dimple, hypertrichosis.[geneticdisordersuk.org] 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]

  • Cerebro-Facio-Thoracic Dysplasia

    dimple Spinal dimple 0000960 Shawl scrotum Scrotum surrounds penis 0000049 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose[rarediseases.info.nih.gov] , syndactyly of toes Ritscher-Schinzel: Dandy-Walker malformation of the brain; atrioventricular septal defect Hypertelorism, downslanting palpebral fissures, low-set ears[en.wikibooks.org] Extra little finger Extra pinkie finger Extra pinky finger [ more ] 0001162 Posteriorly rotated ears Ears rotated toward back of head 0000358 Rib fusion Fused ribs 0000902 Sacral[rarediseases.info.nih.gov]

  • Acrorenal Mandibular Syndrome

    dimple Olfactory nerve Severe limb deficiency Split hand (unilateral) Split foot (unilateral) Varus deformity of the feet Bilateral renal agenesis Ureters Polycystic kidneyes[docksci.com] palpebral fissures epicanthal folds Head And Neck Head: scaphocephaly Growth Other: intrauterine growth retardation (iugr) Cardiovascular Vascular: aberrant origin vertebral[malacards.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]

  • Autosomal-Recessive Robinow Syndrome

    […] sinus / dimple - Short neck - Short philtrum - Simian crease / transverse / unique palmar crease - Strabismus / squint - Supernumerary teeth / polyodontia - Syndactyly of[csbg.cnb.csic.es] palpebral fissures ; Duplication of the distal phalanx of hand ; Flat face ; Frontal bossing ; Gingival overgrowth ; Global developmental delay ; Hydronephrosis ; Hypertelorism[mousephenotype.org] palpebral fissures Downward slanting of the opening between the eyelids 0000494 Duplication of the distal phalanx of hand Duplication of the outermost bone of hand Notched[rarediseases.info.nih.gov]

  • Ring Chromosome 22

    dimples – 50% Deletions are measured in units, kilobases or 1000 base pairs, and megabases or 1 million base pairs.[pmsf.org.uk] palpebral fissures, bifid uvula, midline cleft palate), right simian creases, genua valga q10 q11.2 D7S494/ D7S520 10797441, 15337469, 15580634, 16007665 1 [10797441], case[chr7.org] The clinical findings include epicanthus, flat nasal bridge, hypertelorism, long eye-lashes, lymphoedema, hypoplastic toe nails, hydrocephalus and muscular hypotonia.[ncbi.nlm.nih.gov]

  • Distal Symphalangism

    dimple Overfolded helix Generalized hirsutism Hypermelanotic macule Long penis Aplasia cutis congenita Epiphora Deep palmar crease Cutaneous syndactyly of toes White papule[mendelian.co] Delayed eruption of teeth Thin cortex of diaphyses Polydactyly - postaxial (ulnar)/type unspecified Long/large nose Missing permanent teeth/retained deciduous teeth Bowing[head-face-med.biomedcentral.com] dimple Nephritis Short philtrum Specific learning disability Poor speech Tapered finger Bulbous nose Synophrys Attention deficit hyperactivity disorder Anxiety Athetosis[mendelian.co]

  • Gingival Fibromatosis-Hypertrichosis Syndrome

    dimple Severe global developmental delay Short philtrum Preauricular skin tag Autistic behavior Recurrent infections Elevated alkaline phosphatase Increased body weight Tall[mendelian.co] […] eye lashes.[jisppd.com] palpebral fissures Downward slanting of the opening between the eyelids 0000494 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Seizures Seizure 0001250 Synophrys[rarediseases.info.nih.gov]

  • Blepharofacioskeletal Syndrome

    He had a pectus deformity, sacral dimple, bilateral pes planus and a mild metatarsus adductus. There was moderate developmental delay.[nature.com] TRICHOMEGALY (LONG LASHES) 1. Associated with cataract and hereditary spherocytosis 2.[dentisty.org] 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]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    Sacral Dimple : indentation(s) on the lower back, over the spinal area. Shallow Supraorbital Ridge : ridge above the eyes, below the eyebrows.[ric.edu] Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit[mendelian.co] […] 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]

  • Eyebrow Duplication - Syndactyly Syndrome

    dimple, bilateral undescended testis p15 6678317, 2679090, 8839888, 10494083 case 1 [6678317], Ref. 17 [8839888], case 22 [10494083] trisomy of 7p15-pter; mother had balanced[chr7.org] […] course, the bushy eyebrows and long lashes (in 98%).[disorders.eyes.arizona.edu] He was tanner IV with bilaterally descended testes and a sacral dimple. He had tapered fingers and a slight resting hand tremor.[journals.plos.org]

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