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12 Possible Causes for Downslanting Palpebral Fissures, Flat Facial Profile, 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[mousephenotype.org] […] philtrum - Long / thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly[csbg.cnb.csic.es] 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]

  • 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] Systemic Features: The characteristic facial profile (round, flat) is evident at birth. Microcephaly has been seen in some children. Low birthweight is common.[disorders.eyes.arizona.edu] 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]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    palpebral fissures Radioulnar synostosis Long philtrum Delayed ossification of carpal bones Small epiphyses Cerebral atrophy Upslanted palpebral fissure Sparse scalp hair[mendelian.co] […] 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).[entokey.com] The flat facial profile of Marshall syndrome is usually evident into adulthood, unlike Stickler syndrome.[encyclopedia.com]

  • Autosomal Dominant Spastic Paraplegia Type 13

    Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia.[genecards.org] The lashes are long and bushy and lid fissures tend to slope downward. The ocular phenotype has not been fully described no doubt due to the rarity of cases.[disorders.eyes.arizona.edu] Systemic Features: The characteristic facial profile (round, flat) is evident at birth. Microcephaly has been seen in some children. Low birthweight is common.[disorders.eyes.arizona.edu]

  • Blepharofacioskeletal Syndrome

    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] TRICHOMEGALY (LONG LASHES) 1. Associated with cataract and hereditary spherocytosis 2.[dentisty.org] The faces are characterised by blepharophimosis, telecanthus, a broad nasal bridge, flat facial profile (maxillary hypoplasia) and a progressive thickening of the alae nasi[nature.com]

  • Tricho-Dento-Osseous Syndrome

    palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or[mendelian.co] Additional characteristics may include brittle or peeling fingernails, dolichocephalic head form, long, curly eye lashes, and dental abscess formation.[grantome.com] Craniofacial findings include a flat facial profile or an appearance that is often referred to as a "scooped out" face.[ncbi.nlm.nih.gov]

  • Syndromic Microphthalmia 11

    palpebral fissures AD FGFR2 #123790 BECKWITH-WIEDEMANN SYNDROME Deep-set eyes, hypertelorism, epicanthal folds, downslanting palpebral fissures, synophrys AD, sporadic (majority[eyewiki.aao.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] He appears jaundiced; he has a flat facial profile; epicanthal folds and upslanting palpebral fissures, flat nasal bridge, small mouth with protruding tongue, small, cupped[hawaii.edu]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    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] He appears jaundiced; he has a flat facial profile; epicanthal folds and upslanting palpebral fissures, flat nasal bridge, small mouth with protruding tongue, small, cupped[hawaii.edu]

  • Epicanthal Folds

    Shallow bridge to the nose, epicanthal folds (which are due to underdevelopment of the bridge of the nose), mildly downslanted palpebral fissure s, possibly a shallow philtrum[theisaacs22.wordpress.com] […] 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] He appears jaundiced; he has a flat facial profile; epicanthal folds and upslanting palpebral fissures, flat nasal bridge, small mouth with protruding tongue, small, cupped[hawaii.edu]

  • Stevenson Carey Syndrome

    The facial appearance is striking: microcephaly, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum extending below the alae, highly arched[ommbid.mhmedical.com] Gripp et al [2011a] reviewed physical findings in 12 individuals with this variant and noted a distinctive phenotype including dolichocilia (extremely long eye lashes, often[ncbi.nlm.nih.gov] Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of[mendelian.co]

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