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1,407 Possible Causes for Frontal Bossing, Hypertrichosis of Eyebrows, Mutation in the MLL Gene

  • Wiedemann-Steiner Syndrome

    The typical findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. We present two families, with GCPS with a non-syndromic phenotype,...[] 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[] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[]

  • Fucosidosis

    bossing 0002007 Hernia 0100790 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability Mental deficiency Mental retardation Mental retardation[] 0002059 Cervical platyspondyly 0004558 Coxa valga 0002673 Dry skin 0000958 Elevated sweat chloride 0012236 Flexion contracture Flexed joint that cannot be straightened 0001371 Frontal[]

    Missing: Mutation in the MLL Gene
  • Alpha-Mannosidosis

    Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency.[…][]

    Missing: Mutation in the MLL Gene
  • Coffin-Lowry Syndrome

    Facial abnormalities (hypertelorism, frontal bossing, thick lips) become apparent in early childhood.[] The prominent frontal bossing, hypertelorism, downward slant of the eyes toward relatively concave maxillae, prognathism of the mandible, crowded teeth, thick nasal septum[] In infancy the first diagnostic clues are the neonatal hypotonia together with the facial gestalt including hypertelorism, ptosis, frontal bossing, delayed closure of the[]

    Missing: Mutation in the MLL Gene
  • Marshall-Smith Syndrome

    bossing 0002007 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Glossoptosis Retraction of the tongue 0000162 Hearing impairment Deafness Hearing[] The facial appearance showed triangular shape with frontal bossing, down-slanting palpebral fissures, small mouth, prominent, thin mandible, and everted lower lips.[] […] nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Distal widening of metacarpals Wide outermost end of long bone 0006048 Eclabion Outward turned lips 0012472 Frontal[]

    Missing: Mutation in the MLL Gene
  • Thanatophoric Dysplasia

    On ultrasound examination, there was frontal bossing, increased nuchal translucency and short limbs at 12 weeks' gestation and a small thorax and short and bowed long bones[] […] lungs Cloverleaf skull Feeding difficulties in infancy Rare Symptoms - Less than 30% cases Smooth philtrum Hypoglycemia Talipes Hyperhidrosis Mandibular prognathia Thick eyebrow[] bossing, depressed nasal bridge, and narrow thoracic cage with severe respiratory insufficiency.[]

    Missing: Mutation in the MLL Gene
  • Genee-Wiedemann Syndrome

    On examination, dyscephaly with frontal bossing, mild malar and mandibular hypoplasia, hypertelorism, broad nasal root, down-slanting palpebral fissures, macrostomia, low[] Wiedemann-Steiner syndrome results from a mutation in the MLL (also known as KMT2A ) gene on the long arm of chromosome 11 .[] Integumentary Hypertrichosis 5 / - Hypertrichosis cubiti 5 / - Long/thick eyelashes 5 Thick eyebrows 5 e Thick hair n.a.[]

  • BOD Syndrome

    Diseases related with Frontal bossing and Thick eyebrow In the following list you will find some of the most common rare diseases related to Frontal bossing and Thick eyebrow[] […] and eyelash hypertrichosis, diffuse hirsutism and, most typically, hypoplastic to absent fifth finger nails and phalanges (Fig. 39.2), although other fingers and/or toes[] […] of nose Widened nasal bridge [ more ] 0000431 30%-79% of people have these symptoms Biparietal narrowing 0004422 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Frontal[]

    Missing: Mutation in the MLL Gene
  • Autosomal Dominant Prognathism

    bossing, enlarged paranasal sinuses (especially frontal sinuses) and an enlarged sella turcica .[] […] congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows[] bossing, prognathism, hearing loss, hypertelorism, wide and dense clavicles-ribs, sclerotic calvarium, enlarged and sclerotic mandible, sclerotic vertebral end plates and[]

    Missing: Mutation in the MLL Gene
  • Ring Chromosome 15

    Clinical examination of the patient revealed the characteristic features of ring chromosome 15, such as growth retardation, hypertelorism, frontal bossing, a highly arched[] Duplication or amplification of chromosome band 11q23, including the unrearranged MLL gene, is a recurrent abnormality in therapy-related MDS and AML, and is closely related[] Other frequent findings include delayed bone age (75%), brachydactyly (44%), speech delay (39%), frontal bossing (36%), anomalous ears (30%), café-au-lait spots (30%), cryptorchidism[]

    Missing: Hypertrichosis of Eyebrows

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