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1,033 Possible Causes for Absent Ureters, Downslanting Palpebral Fissures, Long Lashes

  • Acrorenal Mandibular Syndrome

    : absent ureters Neurologic Peripheral Nervous System: absent olfactory bulbs and tracts[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] Bilateral renal agenesis, absent ureters and small bladder were confirmed.[orbi.uliege.be]

  • Rubinstein-Taybi Syndrome

    […] urine in the kidney (hydronephrosis), and/or backflow (reflux) of urine into the tubes (ureters) that normally bring urine to the bladder.[rarediseases.org] 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] lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[genedx.com]

  • Acrootoocular Syndrome

    Renal agenesis Renal agenesis is the most profound renal tract malformation characterized by complete absence of kidney development and is often accompanied by an absent ureter[academic.oup.com] Clinical description Facial dysmorphism is characterized by small head, downslanting palpebral fissures, broad base of the nose, micrognathia and malformed ears.[orpha.net] Ophthalmological Manifestations Synophrys and long eye lashes although not specific, are seen in over 95 % of children with CdLS.[entokey.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] Pterygium colli-mental retardation-digital anomalies Pterygium colli, ptosis, upslanting palpebral fissures, hypertelorism, broad nasal base and bridge, epicanthus inversus[en.wikibooks.org]

    Missing: Absent Ureters
  • 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] 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] […] delay [ more ] 0000750 Depressed nasal tip Caved in nasal tip Depressed tip of nose Flat nasal tip Flat tip of nose Flattened nasal tip Nasal tip, depressed [ more ] 0000437 Downslanted[rarediseases.info.nih.gov]

    Missing: Absent Ureters
  • Distal Symphalangism

    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] palpebral fissures Nevus Cognitive impairment Delayed tarsal ossification Shortening of all middle phalanges of the fingers Longitudinal vaginal septum Penile hypospadias[mendelian.co] 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]

  • 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]

    Missing: Absent Ureters
  • Malpuech Syndrome

    The bladder was small or absent in 20 (17.1%) and cystic dysplasia of the kidneys was reported in 14 patients (12%).[jmg.bmj.com] Carnevale syndrome shows hypertelorism, downslanting palpebral fissures, ptosis, strabismus synophrys, large and fleshy ears, and lozenge-shaped diastasis around the umbilicus[ncbi.nlm.nih.gov] Carnevale syndrome shows hypertelorism, downslanting palpebral fissures, ptosis, strabismus synophrys, large and fleshy ears, and lozenge‐shaped diastasis around the umbilicus[doi.org]

    Missing: Long Lashes
  • Hypomandibular Faciocranial Dysostosis

    Cholangitis Abnormality of the middle ear Total anomalous pulmonary venous return Clitoral hypoplasia Reticular hyperpigmentation Mania Abnormal adipose tissue morphology Absent[mendelian.co] Diseases related with Downslanted palpebral fissures and Hypoplasia of the maxilla In the following list you will find some of the most common rare diseases related to Downslanted[mendelian.co] palpebral fissures Downward slanting of the opening between the eyelids 0000494 Laryngeal hypoplasia 0008749 Narrow mouth Small mouth 0000160 Optic nerve coloboma 0000588[rarediseases.info.nih.gov]

    Missing: Long Lashes
  • 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] 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] Facial characteristics included a prominent forehead, up-swept frontal hairline, downslanting palpebral fissures, ocularhypertelorism, and small prominent ears with a simplified[docslide.com.br]

    Missing: Absent Ureters

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