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1,829 Possible Causes for High Peaks of Upper Lip Vermilion Border, Relative Macrocephaly in Childhood, Vertebral Abnormalities

  • Noonan Syndrome

    […] of the vertebral column Abnormal spine Abnormal vertebral column Abnormality of the spine [ more ] 0000925 Amegakaryocytic thrombocytopenia 0004859 Atrial septal defect An[rarediseases.info.nih.gov] abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, limb defects syndrome Vertebral anomalies/dysgenesis, anal atresia, tracheo-esophageal fistula[icd9data.com] Cubitus valgus, kyphosis, scoliosis, vertebral anomalies, genuavalga, pesplanus, and syndactyly may also be present. 7 Cardiovascular abnormalities occur in 50–90% of individuals[touchendocrinology.com]

    Missing: 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] Orthopedic Manifestations: Bone abnormalities sometimes seen in NF1 include tibial bowing/pseudarthrosis, sphenoid wing dysplasia, vertebral dysplasias, and scoliosis.[clinicaladvisor.com] Absolute or relative macrocephaly has been seen in children and adults with Legius syndrome.[ncbi.nlm.nih.gov]

  • Alpha-Mannosidosis

    […] anomalies, long bone and joint abnormalities, ataxia, and myopathy.[secure.ssa.gov] Osteopenia Calvaria Vertebral deformations Bowing of the legs Bone and Joint deterioration Psychiatric symptoms ( 25%) [4] Acute and recurrent attacks of confusion Anxiety[oncofertility.northwestern.edu] Skeletal abnormalities include kyphoscoliosis, anterior beaking and wedging of the vertebral bodies, a lumbar gibbus deformity, widening of the ribs, proximal pointing of[emedicine.medscape.com]

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

    […] with NBCCS childhood medulloblastoma macrocephaly (occipital frontal circumference 97th centile) cleft lip/palate vertebral/rib anomalies preaxial or postaxial polydactyly[invitae.com] abnormalities Increased risk of medulloblastoma (malignant brain tumor) during childhood Increased risk of cardiac or ovarian fibromas (benign, or noncancerous, tumors) Basal[hopkinsmedicine.org] 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]

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

    abnormalities.[ncbi.nlm.nih.gov] Goldenhar syndrome is a developmental abnormality of 1st & 2nd branchial arch involving the craniofacial microsomia with ocular & vertebral abnormality.[ncbi.nlm.nih.gov] Vertebral abnormalities: hemivertebra or block vertebra, vertebral hypoplasia, absent ribs, short neck. Midline facial cleft.[patient.info]

    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] abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, limb defects syndrome Vertebral anomalies/dysgenesis, anal atresia, tracheo-esophageal fistula[emedcodes.com] Trichorhinophalangeal syndrome Tricho-thiodystrophy Triplet monster Type III short rib polydactyly syndrome Umbilical fistula Vater association Venous-lymphatic malformation Vertebral[icd9data.com]

    Missing: Relative Macrocephaly in Childhood
  • 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] OBJECTIVE: To explore the prevalence and distribution of abnormal vertebral pedicles in scoliosis secondary to neurofibromatosis type 1 (NF1-S) and to compare the abnormal[ncbi.nlm.nih.gov] Vertebral arteriovenous fistula (VAVF), which can cause subarachnoid hemorrhage (SAH) when having a perimedurally drainage, has been reported as a rare vascular abnormality[ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Autosomal-Recessive Robinow Syndrome

    Autosomal recessive Robinow syndrome is caused by mutations in ROR2 and is characterized by short stature, mesomelic limb shortening, brachydactyly, vertebral abnormalities[ncbi.nlm.nih.gov] […] such as malocclusion, crowding, and hypodontia; vertebral abnormalities such as hemivertebrae and scoliosis; cardiac defects, more commonly pulmonary stenosis and pulmonary[karnatakaanaesthj.org] Vertebral abnormalities are more frequent and more pronounced in the recessive form of Robinow syndrome.[encyclopedia.com]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • 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] Bone abnormalities include Subperiosteal bone cysts Vertebral scalloping Thinning of the long-bone cortex Pseudarthrosis Absence of the greater wing of the sphenoid bone ([merckmanuals.com] Look for scoliosis, vertebral angulation, and limb abnormalities, particularly tibial dysplasia.[pediatrics.aappublications.org]

    Missing: High Peaks of Upper Lip Vermilion Border
  • 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] […] including vertebral abnormality 31 2 Reply spina bifida is associated with orthopedic abnormalities due to unbalanced muscle action around joints.[dailyrounds.org] There are two types of basilar invagination: Primary, a congenital abnormality often associated with other vertebral defects such as atlanto-occipital fusion, hypoplasia of[pulsus.com]

    Missing: High Peaks of Upper Lip Vermilion Border

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