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57 Possible Causes for Downslanting Palpebral Fissures, Long Lashes, Short Finger

  • Rubinstein-Taybi Syndrome

    KS patients also have very short fingers.[] 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.[]

  • Acrootoocular Syndrome

    Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[] Ophthalmological Manifestations Synophrys and long eye lashes although not specific, are seen in over 95 % of children with CdLS.[] finger 60 33 frequent (33%) Frequent (79-30%) HP:0009381 23 atresia of the external auditory canal 60 33 frequent (33%) Frequent (79-30%) HP:0000413 24 short metacarpal 60[]

  • Wiedemann-Steiner Syndrome

    […] middle phalanx of finger Short middle bone of finger 0005819 Short stature Decreased body height Small stature [ more ] 0004322 Short toe Short toes Stubby toes [ more ][] 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[] palpebral fissures Downward slanting of the opening between the eyelids 0000494 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Failure to thrive Faltering weight[]

  • Autosomal-Recessive Robinow Syndrome

    fingers and toes; wedge-shaped spin bones; missing ribs; short stature; and distinctive facial feature.[] 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[]

  • Cerebro-Facio-Thoracic Dysplasia

    […] stature, obesity, gynecomastia, tapering fingers, and shortened toes.[] , syndactyly of toes Ritscher-Schinzel: Dandy-Walker malformation of the brain; atrioventricular septal defect Hypertelorism, downslanting palpebral fissures, low-set ears[] […] white hair White patch [ more ] 0002290 Polyhydramnios High levels of amniotic fluid 0001561 Postaxial hand polydactyly Extra little finger Extra pinkie finger Extra pinky finger[]

  • Acrorenal Mandibular Syndrome

    Plain radiograph / CT Hands short, stubby fingers partial agenesis/aplasia of terminal phalanges, simulating acro-osteolysis delayed bone age Cranial and maxillofacial marked[] 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[]

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    […] arched eyebrow Hypertonia Hypospadias Microcornea Tapered finger Short palm Carious teeth Pectus excavatum Microphthalmia Microcephaly Abnormality of the skeletal system[] 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[]

  • Distal Symphalangism

    60 Occasional (29-5%) 18 camptodactyly of finger 33 HP:0100490 19 short finger 60 Occasional (29-5%) 20 tall stature 33 HP:0000098 21 short 1st metacarpal 33 HP:0010034 22[] palpebral fissures Nevus Cognitive impairment Delayed tarsal ossification Shortening of all middle phalanges of the fingers Longitudinal vaginal septum Penile hypospadias[] Delayed eruption of teeth Thin cortex of diaphyses Polydactyly - postaxial (ulnar)/type unspecified Long/large nose Missing permanent teeth/retained deciduous teeth Bowing[]

  • Hallermann-Streiff Syndrome

    Occasionally distal phalanges are fused Fifth finger is short with absent or rudimentary middle phalanx Feet not affected186100 Hypoplastic left heart syndrome 1 (HLHS1,[] The ophthalmologic exam revealed microphthalmia, iris atrophy, blue sclera, microcorneea, aphakia, downslanting palpebral fissures, bilateral upper eyelid entropion, pendular[] Characteristic changes in the bones of the skull and the long bones of the arms and legs can usually be seen on x ray.[]

  • Progeroid Syndrome Type Petty

    […] distal phalanx of finger Short outermost finger bone 0009882 Short stature Decreased body height Small stature [ more ] 0004322 Sparse hair 0008070 Strabismus Cross-eyed[] lashes * Loose skin * Large fontanel * Low set ears * Poor skull calcification * Protruding jaw * Prematurely aged face * Short stature * Small face * Underdeveloped end[] palpebral fissures ; Everted lower lip vermilion ; Failure to thrive ; Feeding difficulties ; Gastroesophageal reflux ; Generalized hypotonia ; Heterotopia ; High, narrow[]

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