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1,592 Possible Causes for Hypertrichosis of Eyebrows, Macroglossia, Mutation in the MLL Gene

  • Wiedemann-Steiner Syndrome

    Utilizing a whole-exome sequencing approach, the group identified de novo mutations in the mixed lineage leukemia ( MLL ) gene in five of six individuals with the syndrome[news-medical.net] Slater AD (1968) Primary macroglossia. Clin Pediatr 7:357–363 Google Scholar 72.[link.springer.com] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net]

  • Genee-Wiedemann Syndrome

    Wiedemann-Steiner syndrome results from a mutation in the MLL (also known as KMT2A ) gene on the long arm of chromosome 11 .[wiedemannsteiner.com] […] repair in neonates, endotracheal intubation for insufficient airway, and use of specialized nipples or nasogastric tube feedings to manage feeding difficulties resulting from macroglossia[checkorphan.org] Integumentary Hypertrichosis 5 / - Hypertrichosis cubiti 5 / - Long/thick eyelashes 5 Thick eyebrows 5 e Thick hair n.a.[bmcmedgenet.biomedcentral.com]

  • Fucosidosis

    […] features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA[connects.catalyst.harvard.edu] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Lumbar hyperlordosis Excessive inward curvature of lower spine 0002938 Macroglossia[rarediseases.info.nih.gov] Her tongue was protruding due to macroglossia. There were red streaks on gingivae and blue-brown spots on tongue. She had no angiokeratomas in genital area and trunk.[annalsofian.org]

    Missing: Mutation in the MLL Gene
  • Alpha-Mannosidosis

    The facial trait include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, and prognathism.[ncbi.nlm.nih.gov] Clinical findings Macrocephaly, thickened calvaria, coarse face, macroglossia, wide-spaced teeth, prognathism, deafness, mental retardation, hepatosplenomegaly.[medical-dictionary.thefreedictionary.com] Dental anomalies (diastema), large ears, macroglossia, joint stiffness,, hepatosplenomegaly, enlarged head circumference, hearing loss (sensorineural), increased susceptibility[disorders.eyes.arizona.edu]

    Missing: Mutation in the MLL Gene
  • Lymphoma

    Many of these gene mutations figure importantly in the revised WHO classification.[doi.org] These include, among others, mutations of JAK2, MPL, and KIT in MPN 8 – 13 ; NRAS, KRAS, NF1, and PTPN11 in MDS/MPN 14 – 19 ; NPM1, CEBPA, FLT3, RUNX1, KIT, WT1, and MLL in[doi.org]

    Missing: Hypertrichosis of Eyebrows
  • Beckwith-Wiedemann Syndrome

    Its most common feature is macroglossia, being present in most cases. Clinically macroglossia can compromise the airway, cause dysphagia, drooling and poor cosmesis.[ncbi.nlm.nih.gov] […] nasal bridge, hypoplastic philtrum and prominent jaw, low posterior hairline, and hypertrichosis.[ncbi.nlm.nih.gov] Beckwith Wiedemann syndrome (BWS) is a rare, congenital overgrowth disorder that is characterized by macroglossia, anterior abdominal wall defects, visceromegaly, gigantism[ncbi.nlm.nih.gov]

    Missing: Mutation in the MLL Gene
  • Congenital Macroglossia

    Therefore it was diagnosed as congenital muscular macroglossia.[kjorl.org] Growth delay Absent speech Hypertrichosis Wide nasal bridge Restrictive ventilatory defect Cataract Vertebral fusion Difficulty climbing stairs Calf muscle hypertrophy Difficulty[mendelian.co] AB - Objectives: A case of congenital macroglossia is reported. The most important sign of macroglossia is tongue protrusion through the lips.[moh-it.pure.elsevier.com]

    Missing: Mutation in the MLL Gene
  • Duchenne Muscular Dystrophy

    This article describes the complex orthodontic treatment of a 22-year-old patient with Duchenne muscular dystrophy and macroglossia.[ncbi.nlm.nih.gov] There is pseudohypertrophy of tongue (macroglossia in 30% cases) and calf muscles (60% cases).[symptoma.com] […] tendo Achillis reflex remains intact even in the later stages of this disease), pain in the calves with activity ( 30% of patients), pseudohypertrophy of the calf (60%), and macroglossia[emedicine.medscape.com]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Hypertrichotic Osteochondrodysplasia

    […] coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, prominent mouth with full lips and macroglossia[orpha.net] […] acromegaloid facial features (HAFF) are characterized by congenital hypertrichosis; distinctive coarse facial features (including broad nasal bridge, wide mouth with full lips and macroglossia[ncbi.nlm.nih.gov] Clinical examination showed a mentally alert, well-built girl with hypertrichosis, presenting with extremely bushy eyebrows with downy growth of hair on the cheeks, chin,[ijdr.in]

    Missing: Mutation in the MLL Gene
  • Angioedema

    Gilbert Triplett, Massive Macroglossia Secondary to Angioedema: A Review and Presentation of a Case, Journal of Oral and Maxillofacial Surgery, 73, 5, (905), (2015).[doi.org]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene

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