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3,127 Possible Causes for Freckles, High Peaks of Upper Lip Vermilion Border, Short Neck

  • Legius Syndrome

    neck Excess skin on back of neck Wideset eyes Downslanting palpebral fissures Short, broad nose with flat tip Depressed nasal root Low-set ears that point toward the back[forgottendiseases.org] It is characterized mainly by café au lait macules, axillary freckling, and macrocephaly. Dr.[medscape.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

    Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate[ncbi.nlm.nih.gov] […] and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling[orpha.net] Clinical phenotype (facial dysmorphism, soft hair, short neck, broad chest, widely spaced nipples, mild pectus carinatum, deep palmar creases, unilateral cryptorchidism),[ncbi.nlm.nih.gov]

  • Costello Syndrome

    His clinical findings were sparse, thin, and light-colored hair, bilateral ptosis, low-set ears, depressed nasal bridge, bulbous nose, short neck, loose pigmented skin with[ncbi.nlm.nih.gov] Signs and Symptoms: Brown skin spots that look like freckles called letigines Cafe-au-lait spots Short stature and delays in growth Cardiac involvement including congenital[care.com] Of primary concern to anaesthesiologists are potential airway difficulties related a short neck, macroglossia, hypertrophied tonsillar and supraglottic tissues, laryngeal[ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Pallister-Killian Syndrome

    Here, we report on an unusual case of i(12p) in a 15-year-old boy presenting with mild mental retardation, minor facial features (long face, prognathism, short neck), normal[ncbi.nlm.nih.gov] Her porcelain skin is now speckled with the cutest freckles with an unruly crop of curls atop her head. Brianna is blind, non-verbal, and she cannot crawl or walk.[childrens-specialized.org] neck, low-implanted ears, large tongue, hypoplastic nails and small hands, sparse hair and areas of unusual skin pigmentation.[symptoma.com]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Sunburn

    Remember the shadow rule: "Watch your shadow – Short shadow, seek shade!"[who.int] Other risk factors include a fair complexion, found commonly in people with blueor green eyes, freckles, and light-colored hair (The Skin Cancer Foundation, 2008).[ncbi.nlm.nih.gov] The adjusted prevalence of sunburn was particularly common among adults aged 18-29years (52.0%), those who repeatedly burn or freckle after 2weeks in the sun (45.9%), whites[ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border
  • LEOPARD Syndrome

    neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Subvalvular[rarediseases.info.nih.gov] We report a 9-year-old boy affected by LEOPARD syndrome, who also had ichthyosis, axillary freckling, two café au lait spots, and one neurofibroma.[ncbi.nlm.nih.gov] Unlike freckles, these spots are not affected by sun exposure.[dermnetnz.org]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Neurofibromatosis Type 1

    NF1-Noonan Syndrome CAL, ocular hypertelorism, down-slanting palpebral fissures, low-set ears, webbed neck, short stature, and congenital heart disease. 12% of individuals[doi.org] Axillary freckling and inguinal freckling often develop during puberty.[emedicine.com] Intertriginous freckling develops starting at 5 years. Multiple cutaneous and subcutaneous neurofibromas develop in adults.[web.archive.org]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Malignant Melanoma in Childhood

    METHODS AND RESULTS: Reported is a case of a 5-year-old boy with a congenital large melanocytic nevus of the head and neck who presented with a short history of low back and[ncbi.nlm.nih.gov] These comprise Caucasian descent, fair skin, blonde or red hair, facial freckling, light eye color, the inability to tan on exposure to the sun and the tendency to burn with[symptoma.com]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Neurofibromatosis-Noonan Syndrome

    He has multiple café-au-lait spots and axillary freckling, relative macrocephaly, ptosis, mid-face hypoplasia, short neck and pulmonic stenosis.[ncbi.nlm.nih.gov] neck.[ncbi.nlm.nih.gov] […] and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling[orpha.net]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Neurofibroma

    The tumor is not well circumscribed, and its short spindle cells have long wavy nuclei, with partial positivity for S100.[link.springer.com] Axillary freckling and inguinal freckling often develop during puberty.[emedicine.medscape.com] Freckling Freckling in the armpits is also known as Crowe sign and is characteristic of neurofibromatosis type 1.[dermnetnz.org]

    Missing: High Peaks of Upper Lip Vermilion Border

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