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17 Possible Causes for Absent Bladder, Downslanting Palpebral Fissures, Long Lashes

  • 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] […] that is noticeable after birth Slow development of cognitive skills Slow development of motor skills accompanied by low muscle tone Other signs and symptoms may include: Absent[nicklauschildrens.org] lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[genedx.com]

  • Acrorenal Mandibular Syndrome

    palpebral fissures epicanthal folds Head And Neck Head: scaphocephaly Growth Other: intrauterine growth retardation (iugr) Cardiovascular Vascular: aberrant origin vertebral[malacards.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] Synopsis craniofacial anomalies mandibular hypoplasia (very hypoplastic mandible) narrow head downslanting palpebral fissures slight webbing of the neck low-set posteriorly[humpath.com]

  • 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] […] or hypoplastic corpus callosum mental retardation and dysmorphic features Exstrophy of the bladder Familial hemiplegic migraine type 2 Spondyloepimetaphyseal dysplasia with[checkrare.com] […] 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]

  • Distal Symphalangism

    palpebral fissures Nevus Cognitive impairment Delayed tarsal ossification Shortening of all middle phalanges of the fingers Longitudinal vaginal septum Penile hypospadias[mendelian.co] Kidneys, ureters and bladder may be structural anomalies. Nervous Sisitemul shows lack vigor, lethargy, slow tendon reflexes, rapid or absent and sensory deficits.[medicaldb.blogspot.com] Delayed eruption of teeth Thin cortex of diaphyses Polydactyly - postaxial (ulnar)/type unspecified Long/large nose Missing permanent teeth/retained deciduous teeth Bowing[head-face-med.biomedcentral.com]

  • Amaurosis-Hypertrichosis Syndrome

    palpebral fissures Epicanthus Abnormality of the tongue Need help with a diagnosis?[mendelian.co] […] or hypoplastic corpus callosum mental retardation and dysmorphic features Exstrophy of the bladder Familial hemiplegic migraine type 2 Spondyloepimetaphyseal dysplasia with[checkrare.com] Terminal hair, the third type, is on the scalp and forms the eyebrows and lashes.[blogs.plos.org]

  • 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] (13%), head titubation (28%), d eafness, bladder dysfunction and retinitis pigmentosa.[neuroweb.us] TRICHOMEGALY (LONG LASHES) 1. Associated with cataract and hereditary spherocytosis 2.[dentisty.org]

  • 10q22.3-q23.3 Microdeletion Syndrome

    palpebral fissures;HP:0000582 Upslanted palpebral fissure;HP:0000601 Hypotelorism;HP:0000717 Autism;HP:0001166 Arachnodactyly;HP:0001250 Seizures;HP:0001382 Joint hypermobility[pediascape.org] The brain may have microgyria, absent olfactory nerves, cerebral dysgenesis or hydrocephalus [ 41, 42 ]. It may also predispose to neoplasia formation [ 43 ].[entokey.com] palpebral fissures Intrauterine growth retardation Abnormality of the pinna Everted lower lip vermilion Round face Deeply set eye Prominent forehead Cleft upper lip Protruding[mendelian.co]

  • Mirhosseini-Holmes-Walton Syndrome

    Palpebral Fissures Retinal Colobomas With Or Without Microphthalmia Hemeralopia Constricted Visual Field Optic Disk Atrophy Chorioretinal Dystrophy Strabismus Retinal Pigmentary[neo-genetics.com] […] eyelashes Corneal erosion Blepharitis Uveitis Mixed hearing impairment Submucous cleft hard palate Absent septum pellucidum Episcleritis Hypoplasia of the bladder Intestinal[mendelian.co] Patients tend to have thick hair and eyebrows, long lashes, a peculiar eye shape (down slanting palpebral fissures and almond-shaped eyesantimongoloid slant or arched eyelids[cyberleninka.ru]

  • 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] […] incontinence, blepharophimosis with horizontal palpebral fissures, distachiasis, absent nasal bridge, depressed nasal tip, cupped and protruding ears, depressed premaxillary[chr7.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]

  • Syndactyly - Polydactyly - Ear Lobe Syndrome

    palpebral fissures, abnormal ears, vertebral abnormalities, cardiac defect, genital hypoplasia, anal abnormalities p22.2 - 22.1 D7S531/ D7S517 12457405 monosoy of 7p22.3-[chr7.org] […] anterior wall of abdomen and urinary bladder), intersex (anomalous genitalia), absent vaginal opening etc.[cosmeticsurgeondelhi.net] […] 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]

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