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932 Possible Causes for Downslanting Palpebral Fissures, Dystrophic Toenail, Long Lashes

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    toenail Bilateral cleft lip Pili torti Anodontia Dystrophic fingernails Abnormality of hair texture Abnormality of the philtrum Cutaneous syndactyly of toes Progressive hypotrichosis[] 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[]

  • 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.[] Facial features are striking including heavy, arched eyebrows, long eyelashes, downslanting palpebral fissures, beaked nose, broad nasal bridge, narrow, high-arched palate[]

    Missing: Dystrophic Toenail
  • 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[] Pterygium colli-mental retardation-digital anomalies Pterygium colli, ptosis, upslanting palpebral fissures, hypertelorism, broad nasal base and bridge, epicanthus inversus[]

    Missing: Dystrophic Toenail
  • 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[] […] delay [ more ] 0000750 Depressed nasal tip Caved in nasal tip Depressed tip of nose Flat nasal tip Flat tip of nose Flattened nasal tip Nasal tip, depressed [ more ] 0000437 Downslanted[]

    Missing: Dystrophic Toenail
  • 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.[] palpebral fissures ; Epicanthus ; Failure to thrive ; Finger syndactyly ; Growth hormone deficiency ; Hearing impairment ; High palate ; Hypotelorism ; Increased number of[]

    Missing: Dystrophic Toenail
  • 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[] Synopsis craniofacial anomalies mandibular hypoplasia (very hypoplastic mandible) narrow head downslanting palpebral fissures slight webbing of the neck low-set posteriorly[]

    Missing: Dystrophic Toenail
  • Oculo-Osteo-Cutaneous Syndrome

    toenail Bilateral cleft lip and palate Everted lower lip vermilion Abnormality of the ureter Cutaneous finger syndactyly Scrotal hypoplasia Sparse eyelashes Hypohidrosis[] palpebral fissures more Chest Breasts: hypoplastic nipples small breast unpigmented areola Head And Neck Teeth: anodontia Skeletal Feet: short metatarsals short toes (2nd[] (Dorland, 27th ed) Downslanted palpebral fissures MedGen UID: 98391 • Concept ID: C0423110 • Finding The palpebral fissure inclination is more than two standard deviations[]

    Missing: Long Lashes
  • Autosomal-Recessive Robinow Syndrome

    palpebral fissures ; Duplication of the distal phalanx of hand ; Flat face ; Frontal bossing ; Gingival overgrowth ; Global developmental delay ; Hydronephrosis ; Hypertelorism[] […] philtrum - Long / thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly[] 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[]

    Missing: Dystrophic Toenail
  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Fingernails were thin and brittle; toenails were wide, short and dystrophic, with paronychia (Fig. 2a).[] palpebral fissures Radioulnar synostosis Long philtrum Delayed ossification of carpal bones Small epiphyses Cerebral atrophy Upslanted palpebral fissure Sparse scalp hair[] […] eye lashes Oliver-McFarlane All the conditions are rare inherited diseases; the most frequent syndromes are Usher’s syndrome (USH) and Bardet-Biedl syndrome (BBS).[]

  • Zlotogora-Ogur Syndrome

    […] fingernails Dystrophic toenail Highly arched eyebrow Hypogonadism Hypoplasia of the zygomatic bone Intellectual disability Micrognathia Midface retrusion Neurological speech[] Diseases related with Downslanted palpebral fissures and Hypotrichosis In the following list you will find some of the most common rare diseases related to Downslanted palpebral[] […] fingernails Poor fingernail formation 0008391 Dystrophic toenail Poor toenail formation 0001810 Highly arched eyebrow Arched eyebrows Broad, arched eyebrows High, rounded[]

    Missing: Long Lashes

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