Create issue ticket

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

  • 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[rarediseases.info.nih.gov] […] tone ( hypotonia ).[en.wikipedia.org] 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]

  • 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[mendelian.co] 0001644 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Epicanthus inversus 0000537 Feeding difficulties in infancy 0008872 Generalized hypotonia Decreased muscle[rarediseases.info.nih.gov] 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[medcraveonline.com]

  • 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[en.wikibooks.org] 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[rarediseases.info.nih.gov] Otherfindings included abdominal recti muscle diastasis anddorsolumbar scoliosis.[docslide.com.br]

  • Roifman Syndrome

    palpebral fissures AD FGFR2 #123790 BECKWITH-WIEDEMANN SYNDROME Deep-set eyes, hypertelorism, epicanthal folds, downslanting palpebral fissures, synophrys AD, sporadic (majority[eyewiki.aao.org] 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[maxcachiafund.org] […] philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ...[databases.lovd.nl]

  • Acrootoocular Syndrome

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

  • 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.[ncbi.nlm.nih.gov] Stippling (chondrodysplasia punctata) involving the epiphyses of the long bones and vertebrae, the trachea and distal ends of the ribs seen on x-ray.[ncbi.nlm.nih.gov] Clinical features of CDPX2: Growth deficiency / short stature Craniofacial appearance Frontal bossing Flat nasal bridge Sparse eyebrows and lashes, often asymmetric Skeletal[ncbi.nlm.nih.gov]

  • Autosomal-Recessive Robinow Syndrome

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

  • Hallermann-Streiff Syndrome

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

  • 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[chr7.org] However, young AS patients may also exhibit feeding difficulties and muscle hypotonia.[clinchem.aaccjnls.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]

Similar symptoms