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572 Possible Causes for High Peaks of Upper Lip Vermilion Border, Low-Set Posteriorly Rotated Ears, Relative Macrocephaly in Childhood

  • Legius Syndrome

    The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[ncbi.nlm.nih.gov] Noonan like features include congenital heart problems, hyperextensibility, low muscle tone, low set and posteriorly rotated ears, deeply grooved philtrum, wide spaced eyes[inspire.com] Noonan syndrome : short size (40%-50%), facial dysmorphism (hypertelorism, antimongoloid palpebral fissures, ptosis, low-set and posteriorly rotated ears, etc.), short neck[admerahealth.com]

  • Noonan Syndrome

    The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears.[flybase.org] Definition A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly[uniprot.org] posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity.[orpha.net]

    Missing: Relative Macrocephaly in Childhood
  • Multiple Congenital Anomalies

    The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple[nature.com] posteriorly rotated ears with overfolded thick helices.[ncbi.nlm.nih.gov] […] fissures, bulbous nose, wide nasal bridge, high arched palate, low-set and posteriorly rotated ears, micrognathia, short neck, ptosis, patient ductus arteriosus, hypoplastic[ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Baller-Gerold Syndrome

    , posteriorly rotated ears 0000368 Midface capillary hemangioma 0007452 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Optic atrophy 0000648[rarediseases.info.nih.gov] Low set posteriorly rotated ears (64%). Micrognathia (50%). Microstomia (32%). Limbs. Radial aplasia/hypoplasia (77%). Ulna, short and curved (68%).[fetalultrasound.com] A peculiar facial appearance with micrognathia, downward slanting palpebral fissures, and malformed, low-set, and posteriorly rotated ears is recognized.[doi.org]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • Cerebro-Facio-Thoracic Dysplasia

    , posteriorly rotated ears, short neck, and multiple costal and vertebral anomalies.[unboundmedicine.com] Low-set, posteriorly rotated ears 0000368 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Microdontia of primary teeth Decreased[rarediseases.info.nih.gov] , posteriorly rotated ears, short neck,... more Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics[scinapse.io]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • Gorlin-Chaudhry-Moss Syndrome

    […] with high and wide peaks to the vermilion border of upper lip, small chin and short neck.[vivavoceoralmedicineradiology.com] , posteriorly rotated ears Low-set, posteriorly rotated ears phenotype Finding 148 2 0.100 0 CUI: C2315100 Disease: Pediatric failure to thrive Pediatric failure to thrive[disgenet.org] […] anterior hairline ; Low posterior hairline ; Low-set ears ; Mandibular prognathia ; Microcephaly ; Microdontia ; Micrognathia ; Micropenis ; Microphthalmia ; Midface retrusion[mousephenotype.org]

    Missing: Relative Macrocephaly in Childhood
  • Autosomal-Recessive Robinow Syndrome

    , posteriorly rotated ears Chronic otitis media ... ...[familydiagnosis.com] set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Pectus excavatum[csbg.cnb.csic.es] , posteriorly rotated) ears.[rarediseases.org]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • Crane-Heise Syndrome

    , posteriorly rotated ears 0000368 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more[rarediseases.info.nih.gov] […] more ] 0000316 Hypoplastic scapulae Small shoulder blade 0000882 Intrauterine growth retardation Prenatal growth deficiency Prenatal growth retardation [ more ] 0001511 Low-set[rarediseases.info.nih.gov] Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Hypertelorism Wide-set[rarediseases.info.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • Cerebellotrigeminal Dermal Dysplasia

    He had brachyturricephaly, midface retrusion, low-set posteriorly rotated ears and bilateral parietal well circumscribed areas of alopecia.[ncbi.nlm.nih.gov] He had brachyturricephaly, midface retrusion, lowset posteriorly rotated ears and bilateral parietal well circumscribed areas of alopecia.[doi.org] […] and posteriorly rotated ears, and short neck with redundant skin.[ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • Branchio-Oculo-Facial Syndrome

    , posteriorly rotated ears Abnormality of the pinna Conductive hearing impairment Wide nasal bridge Broad nasal tip Microcornea Strabismus ... ...[familydiagnosis.com] We present an 18-day old boy with bilateral cervical cutaneous defect in the retroauricular region, low-set and posteriorly rotated ears, bilateral microphtalmia and bilateral[ncbi.nlm.nih.gov] AB - We present an 18-day old boy with bilateral cervical cutaneous defect in the retroauricular region, low-set and posteriorly rotated ears, bilateral microphtalmia and[miami.pure.elsevier.com]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood