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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[] Slater AD (1968) Primary macroglossia. Clin Pediatr 7:357–363 Google Scholar 72.[] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[]

  • 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 .[] […] repair in neonates, endotracheal intubation for insufficient airway, and use of specialized nipples or nasogastric tube feedings to manage feeding difficulties resulting from macroglossia[] Integumentary Hypertrichosis 5 / - Hypertrichosis cubiti 5 / - Long/thick eyelashes 5 Thick eyebrows 5 e Thick hair n.a.[]

  • Fucosidosis

    […] features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA[] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Lumbar hyperlordosis Excessive inward curvature of lower spine 0002938 Macroglossia[] 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.[]

    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.[] Clinical findings Macrocephaly, thickened calvaria, coarse face, macroglossia, wide-spaced teeth, prognathism, deafness, mental retardation, hepatosplenomegaly.[] Dental anomalies (diastema), large ears, macroglossia, joint stiffness,, hepatosplenomegaly, enlarged head circumference, hearing loss (sensorineural), increased susceptibility[]

    Missing: Mutation in the MLL Gene
  • Lymphoma

    Many of these gene mutations figure importantly in the revised WHO classification.[] 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[]

    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.[] […] nasal bridge, hypoplastic philtrum and prominent jaw, low posterior hairline, and hypertrichosis.[] Beckwith Wiedemann syndrome (BWS) is a rare, congenital overgrowth disorder that is characterized by macroglossia, anterior abdominal wall defects, visceromegaly, gigantism[]

    Missing: Mutation in the MLL Gene
  • Congenital Macroglossia

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

    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.[] There is pseudohypertrophy of tongue (macroglossia in 30% cases) and calf muscles (60% cases).[] […] 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[]

    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[] […] acromegaloid facial features (HAFF) are characterized by congenital hypertrichosis; distinctive coarse facial features (including broad nasal bridge, wide mouth with full lips and macroglossia[] 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,[]

    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).[]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene

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