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46 Possible Causes for Downslanting Palpebral Fissures, Long Lashes, Muscle Hypotonia

  • 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[] In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation[] lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[]

  • 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[] […] tone ( hypotonia ).[] 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[]

  • 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[] 0001644 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Epicanthus inversus 0000537 Feeding difficulties in infancy 0008872 Generalized hypotonia Decreased muscle[] 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[]

  • 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[] Low or weak muscle tone 0001252 Narrow chest Low chest circumference Narrow shoulders [ more ] 0000774 Narrow forehead Decreased width of the forehead 0000341 Neonatal hypotonia[] Otherfindings included abdominal recti muscle diastasis anddorsolumbar scoliosis.[]

  • Roifman Syndrome

    palpebral fissures AD FGFR2 #123790 BECKWITH-WIEDEMANN SYNDROME Deep-set eyes, hypertelorism, epicanthal folds, downslanting palpebral fissures, synophrys AD, sporadic (majority[] Patients with Roifman syndrome have been noted to be short in stature with the following features: Condensed trunk area Limited hip movement Diminished muscle tone (hypotonia[] […] philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ...[]

  • Acrootoocular Syndrome

    Clinical description Facial dysmorphism is characterized by small head, downslanting palpebral fissures, broad base of the nose, micrognathia and malformed ears.[] Multiple Hamartoma Syndrome Multiple Mitochondrial Dysfunctions Syndrome multiple pterygium syndrome multiple synostoses syndrome multiple system atrophy Multisystemic Smooth Muscle[] Ophthalmological Manifestations Synophrys and long eye lashes although not specific, are seen in over 95 % of children with CdLS.[]

  • Rhizomelic Chondrodysplasia Punctata Type 2

    Other distinctive features include downslanting palpebral fissures, ocular hypertelorism, low-set ears, and high-arched palate [ Happle 1979 , Herman 2000 ]. Skeletal.[] Stippling (chondrodysplasia punctata) involving the epiphyses of the long bones and vertebrae, the trachea and distal ends of the ribs seen on x-ray.[] Clinical features of CDPX2: Growth deficiency / short stature Craniofacial appearance Frontal bossing Flat nasal bridge Sparse eyebrows and lashes, often asymmetric Skeletal[]

  • Autosomal-Recessive Robinow Syndrome

    palpebral fissures ; Duplication of the distal phalanx of hand ; Flat face ; Frontal bossing ; Gingival overgrowth ; Global developmental delay ; Hydronephrosis ; Hypertelorism[] […] tone (hypotonia) Feeding/eating difficulties Genital abnormalities, such as a small penis (micropenis) and small testes, in males causing hypogonadism Kidney defects and[] […] philtrum - Long / thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly[]

  • Hallermann-Streiff Syndrome

    The ophthalmologic exam revealed microphthalmia, iris atrophy, blue sclera, microcorneea, aphakia, downslanting palpebral fissures, bilateral upper eyelid entropion, pendular[] Multiple Hamartoma Syndrome Multiple Mitochondrial Dysfunctions Syndrome multiple pterygium syndrome multiple synostoses syndrome multiple system atrophy Multisystemic Smooth Muscle[] Characteristic changes in the bones of the skull and the long bones of the arms and legs can usually be seen on x ray.[]

  • Macrocephaly-Developmental Delay Syndrome

    palpebral fissures, slight pectus q33 RP11-209G24 15834588 same case as 15834588_2; translocation breakpoint lies in intron 11 of SEC8LI Edit 28 12868476_1 46, XX, der(13[] However, young AS patients may also exhibit feeding difficulties and muscle hypotonia.[] […] 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[]

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