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17 Possible Causes for Downslanting Palpebral Fissures, Long Lashes, Receding Chin

  • Rubinstein-Taybi Syndrome

    chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Scoliosis Abnormal curving of the spine 0002650 Self-mutilation Deliberate self-harm Self mutilation [ more ][rarediseases.info.nih.gov] 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]

  • Hallermann-Streiff Syndrome

    The patient had mandibulofacial dystocia with a bird-like appearance, a mouth opening of 4 cm, a receding chin, and a Mallampati class 3 examination.[ncbi.nlm.nih.gov] The ophthalmologic exam revealed microphthalmia, iris atrophy, blue sclera, microcorneea, aphakia, downslanting palpebral fissures, bilateral upper eyelid entropion, pendular[iovs.arvojournals.org] 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]

  • Progeroid Syndrome Type Petty

    chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Scoliosis Abnormal curving of the spine 0002650 Scrotal hypoplasia Smaller than typical growth of scrotum 0000046[rarediseases.info.nih.gov] lashes * Loose skin * Large fontanel * Low set ears * Poor skull calcification * Protruding jaw * Prematurely aged face * Short stature * Small face * Underdeveloped end[checkorphan.org] chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Severe intrauterine growth retardation Severe prenatal growth deficiency 0008846 Short philtrum 0000322 Short[rarediseases.info.nih.gov]

  • Congenital Mandibular Hypoplasia

    Background : Micrognathia is usually associated with genetic syndromes, characterized by mandibular hypoplasia causing a receding chin.[jprjournal.com] palpebral fissures) Can have congenital heart defect (esp PDA) AR inheritance of Ch15 causing DNA fragility Feats: - short stature - telangiectatic erythema of the face ([quizlet.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]

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    chin (Fig. 2), long hands withhyperextensible digits, hypernasal speech, hypotonia, mild-8] shown as a child (A) and in late adolescence (B).2738 AMERICAN JOURNAL OF MEDICAL[docslide.com.br] fissure Micropenis Low-set ears Syndactyly Pica Nail dystrophy Nail dysplasia Microdontia Scoliosis Anteverted nares Micrognathia Downslanted palpebral fissures Intellectual[mendelian.co] They have downward-sloping palpebral fissures, depressed cheekbones, deformed pinnas, receding chin, and wide oral commissures (macrostomia).[emedicine.medscape.com]

  • Acrorenal Mandibular Syndrome

    He was very thin, with a small face, prominent and protruding ears, prominent eyes, small mouth, receding chin.[cags.org.ae] 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]

  • Autosomal-Recessive Robinow Syndrome

    chin Weak jaw Receding lower jaw Weak chin [ more ] 0000278 Rhizomelia Disproportionately short upper portion of limb 0008905 Short neck Decreased length of neck 0000470[rarediseases.info.nih.gov] 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]

  • Wiedemann-Steiner Syndrome

    They have downward-sloping palpebral fissures, depressed cheekbones, deformed pinnas, receding chin, and wide oral commissures (macrostomia).[emedicine.medscape.com] 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]

  • Eyebrow Duplication - Syndactyly Syndrome

    The following abnormal findings were noted: Broad, square-shaped head with flat nose, misshapen ears, cleft palate, receding chin, short neck with additional skinfolds, disproportionately[biomedsearch.com] palpebral fissures, pale highly arched eyebrows, distinct mouth with thin lips and downturned corners, high narrow palate, micrognathia, broad nasal bridge, low-set ears,[chr7.org] […] course, the bushy eyebrows and long lashes (in 98%).[disorders.eyes.arizona.edu]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    Micrognathia : receding chin, underbite. Microphthalmia : an unnatural smallness of the eyes.[ric.edu] 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]

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