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5,002 Possible Causes for High Peaks of Upper Lip Vermilion Border, Mental Retardation, 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] Mental retardation as a sex-linked defect. Am. J. Ment. Dec. 67, 827848. 29. Penrose, L.S. (1938). A clinical and genetic study of 1280 cases of mental defect.[vdocuments.net] Mental retardation is uncommon. Although NF1 and NF2 share a name, they are separate conditions related to different genetic causes.[chw.org]

  • Noonan Syndrome

    […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Percent of people who have these symptoms is not available through HPO Abnormality[rarediseases.info.nih.gov] Noonan syndrome is a developmental disorder characterized by a dysmorphic facial structure, short stature, and mild mental retardation, with associated cardiac defects and[ncbi.nlm.nih.gov] Webbed neck, chest deformity, cryptorchidism, mental retardation and bleeding diatheses also are frequently associated with this disease.[ncbi.nlm.nih.gov]

    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] Dyskinetic movement disorder among adults with mental retardation: Phenomenology and co-occurrence with stereotypy. American Journal of Mental Retardation, 101, 118–129.[dx.doi.org] Obsessive-compulsive disorder in mentally retarded patients. Journal of Nervous and Mental Disease, 177, 232–236.[dx.doi.org]

    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] All patients with uncontrolled seizures had severe mental retardation, and three of these had malformations of cortical development.[ncbi.nlm.nih.gov] retardation (8% of patients) Other-occasional: Syndactyly Glaucoma Ptosis Pruritis Diagnostic Criteria [ edit ] (clinical diagnosis based on a number of clinical findings[en.wikibooks.org]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Fragile X Syndrome

    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] Fragile X syndrome (FXS) is a well-recognized mental retardation syndrome with characteristic facial features and behavioural phenotype.[ncbi.nlm.nih.gov] […] had mental retardation.[nejm.org]

    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] SPG14 Gene Unknown 3q27-q28 Unknown Complicated: polineuropathy, mental retardation.[scielo.br] Additional neurological abnormalities are hearing impairment, mental retardation and ataxia. What Are The Symptoms Of Hereditary Spastic Paraplegia?[epainassist.com]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Beckwith-Wiedemann Syndrome

    macrocephaly, triangular face and feeding difficulties in early childhood [ 2, 3 ].[bmcmedgenet.biomedcentral.com] Clinically, the patient presented with mild mental retardation and minor physical anomalies.[ncbi.nlm.nih.gov] Untreated hypoglycemia may account for some of the sporadic mental retardation encountered with the syndrome.[sonoworld.com]

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

    Our patient's more severe mental retardation may be secondary to deletion of other genes on 9q.[nature.com] […] with high and wide peaks to the vermilion border of upper lip, small chin and short neck.[vivavoceoralmedicineradiology.com] Mental retardation has been observed.[accessanesthesiology.mhmedical.com]

    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] Thus, these findings implicate ST5 in the aetiology of mental retardation, seizures and multiple congenital anomalies.[ncbi.nlm.nih.gov] Array-based comparative genomic hybridization has recently become a widely used approach in the genome-wide analysis of copy number alterations in children with mental retardation[ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border
  • Impacted Cerumen

    Moreover, a strong propensity for recurrent cerumen impaction in the mentally retarded population was found.[ncbi.nlm.nih.gov] Abstract The incidence of occlusion of the external auditory canal due to impacted cerumen was determined for 44 mentally retarded subjects in comparison with 44 nonretarded[ncbi.nlm.nih.gov] Impacted cerumen is a major cause of primary care consultation, and a common comorbidity in ENT patients, the elderly, infirm and people with mental retardation.[ncbi.nlm.nih.gov]

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

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