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29 Possible Causes for High Peaks of Upper Lip Vermilion Border, 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] Absolute or relative macrocephaly has been seen in children and adults with Legius syndrome.[ncbi.nlm.nih.gov]

  • Noonan Syndrome

    Noonan syndrome Other names Male Turner syndrome, Noonan-Ehmke syndrome, Turner-like syndrome, Ullrich-Noonan syndrome [1] A 12-year-old girl with Noonan syndrome. Typical webbed neck. Double structural curve with rib deformity. Specialty Medical genetics, pediatrics Symptoms Mildly unusual facial features, short[…][en.wikipedia.org]

    Missing: Relative Macrocephaly in Childhood
  • Autistic Disorder

    Brain Overgrowth and Macrocephaly The findings of early postnatal brain “overgrowth” in ASD followed by normalization or relative growth arrest in childhood are intriguing[ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Spastic Paraplegia

    Clinical features that may be recognized from birth in the Amish, where the condition occurs at an increased frequency, include low birth weight, relative macrocephaly, triangular[ncbi.nlm.nih.gov] macrocephaly, triangular face shape, poor feeding Early infancy / childhood: delayed walking, delayed speech, swallowing difficulties Pyramidal signs: hyperreflexia, extensor[ncbi.nlm.nih.gov] Neurologic features become more apparent in early childhood and progress slowly. Early developmental milestones.[ncbi.nlm.nih.gov]

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

    The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[web.archive.org] Absolute or relative macrocephaly has been seen in children and adults with Legius syndrome.[web.archive.org]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Neurofibromatosis Type 2

    The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[web.archive.org] Absolute or relative macrocephaly has been seen in children and adults with Legius syndrome.[web.archive.org]

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

    […] with NBCCS childhood medulloblastoma macrocephaly (occipital frontal circumference 97th centile) cleft lip/palate vertebral/rib anomalies preaxial or postaxial polydactyly[invitae.com] First degree relative with NBCCS Minor criteria Childhood medulloblastoma (also called primitive neuro-ectodermal tumor [PNET]) Lympho-mesenteric or pleural cysts Macrocephaly[en.wikibooks.org] […] individuals with the following: lamellar (sheet-like) calcification of the falx jaw keratocyst(s) palmar/plantar pits (two or more) multiple basal cell carcinomas first-degree relative[invitae.com]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Autosomal Recessive Spastic Paraplegia Type 20

    Clinical features that may be recognized from birth in the Amish, where the condition occurs at an increased frequency, include low birth weight, relative macrocephaly, triangular[ncbi.nlm.nih.gov] macrocephaly, triangular face shape, poor feeding Early infancy / childhood: delayed walking, delayed speech, swallowing difficulties Pyramidal signs: hyperreflexia, extensor[ncbi.nlm.nih.gov] Neurologic features become more apparent in early childhood and progress slowly. Early developmental milestones.[ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Gorlin-Chaudhry-Moss Syndrome

    […] with high and wide peaks to the vermilion border of upper lip, small chin and short neck.[vivavoceoralmedicineradiology.com] […] narrow temples,wide spaced eyes, downward slant of palpebral fissures, epicanthal folds, short and broad nose with depressed root and full tip, deeply grooved philtrum, full lips[vivavoceoralmedicineradiology.com]

    Missing: Relative Macrocephaly in Childhood
  • Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

    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] The facial gestalt may be easier to recognize in early childhood.[nature.com]

    Missing: High Peaks of Upper Lip Vermilion Border

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