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3,979 Possible Causes for High Peaks of Upper Lip Vermilion Border, Relative Macrocephaly in Childhood, Short Stature

  • Legius Syndrome

    Other less common manifestations include short stature, macrocephaly, Noonan-like facies, pectus excavatum/carinatum, lipomas, hypopigmented macules, vascular lesions, learning[orpha.net] 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] Other frequently observed features are bone abnormalities, short stature, an abnormally large head, and learning problems.[medscape.com]

  • Noonan Syndrome

    […] signalling pathways involved in short stature.[doi.org] Skeletal dysplasia was proven to be secondary to a disorder of RAS-mitogen activated protein kinase (MAPK) pathway which is essential for regulation of cell differentiation[bone-abstracts.org] This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation.[ncbi.nlm.nih.gov]

    Missing: Relative Macrocephaly in Childhood
  • Autosomal Recessive Spastic Paraplegia Type 20

    The cardinal features of Troyer syndrome include developmental delay, spastic paraparesis, dysarthria, distal amyotrophy, and short stature.[ncbi.nlm.nih.gov] SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature. {ECO:0000269 PubMed:12134148}.[genecards.org] SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature.[mybiosource.com]

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

    Typical findings in the GCM syndrome are short stature, stocky body build, midface hypoplasia, small eyes, downslanting palpebral fissures, conductive hearing loss, highly[ncbi.nlm.nih.gov] […] with high and wide peaks to the vermilion border of upper lip, small chin and short neck.[vivavoceoralmedicineradiology.com] Patients present with either normal intelligence or mild mental retardation and short stature.[accessanesthesiology.mhmedical.com]

    Missing: Relative Macrocephaly in Childhood
  • Curry Hall Syndrome

    dysplasia manifest by nail dystrophy, oral and dental anomalies, polydactyly of the hands and feet, and mild short stature.[amhsjournal.org] peaks of upper lip vermilion border; High arched palate; [Teeth]; Dental malocclusion; [Neck]; Webbed neck; Cystic hygroma; Short neck CARDIOVASCULAR: [Heart]; Congenital[genome.jp] Conclusion WAD is a rare skeletal dysplasia characterized by oral and dental anomalies, onychodystrophy, polydactyly of the hands and feet, and mild short stature.[amhsjournal.org]

    Missing: Relative Macrocephaly in Childhood
  • Malnutrition

    Some of the symptoms of severe malnutrition include short stature, low energy levels, and swollen legs and stomach (edema/ascites).[chop.edu] stature.[britannica.com] […] for their age during childhood and of short stature as an adult).[myvmc.com]

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

    We report on an individual with developmental delays, short stature, skeletal abnormalities, normal pubertal development, expansion of the fragile X triplet repeat, as well[ncbi.nlm.nih.gov] Seizures have been reported in approximately 13% to 18% of affected males and 5% of females with a full mutation, and there may be relative macrocephaly.[pediatrics.aappublications.org] FAS, and autism Coffin-Lowery shares features of prominent ears, coarse features Lujan Fryns syndrome - marfanoid habitus and machroorchidism Atkin syndrome - large ears, short[en.wikibooks.org]

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

    Osteopenia, osteoporosis, bone overgrowth, short stature, macrocephaly, scoliosis, skeletal dysplasia (sphenoid wing, vertebral), and pseudoarthrosis may be present.[orpha.net] 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
  • Hyperextensible Joints

    It comprises several clinical abnormalities: prominent facial appearance, congenital heart lesions, and shortness of stature, as well as other skeletal abnormalities, webbed[jamanetwork.com] This review has found that in TS 39.7% of cases had relative macrocephaly with an SDS difference 1.5.[nanopdf.com] stature; hyperextensible joints & skin; blue sclerae; bilateral epicanthal folds; velvet textured skin; cigarettepaper-like scar; similarly aff. brother; father & pat. side[coriell.org]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Growth Hormone Deficiency

    We present a case of 21-year-old woman with clinical and radiological characteristics of MAS triad; she presented with short stature which was attributed to both growth hormone[ncbi.nlm.nih.gov] BACKGROUND: The objective of the study was to describe the pituitary volume (PV) in pediatric patients with isolated growth hormone deficiency (IGHD), idiopathic short stature[ncbi.nlm.nih.gov] More complex are issues related to hGH treatment to increase growth rates and heights of otherwise healthy short children with either idiopathic short stature or 'partial'[ncbi.nlm.nih.gov]

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

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