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951 Possible Causes for Coarse Face, Hypertrichosis of Eyebrows, Mutation in the MLL Gene

  • Coffin-Lowry Syndrome

    Typically, male patients are of short stature and exhibit a characteristic coarse face with a prominent forehead, orbital hypertelorism, downslanting palpebral fissures, thick[ncbi.nlm.nih.gov] Furthermore, a coarse face with prominent brow, hypertelorism and thick nasal tissues, can be present.[dx.doi.org] Typically male patients are of short stature and exhibit a characteristic coarse face with a prominent forehead, microcephaly, hypertelorism, downslanting palpebral fissures[dx.doi.org]

    Missing: 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] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net] Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.[uniprot.org]

    Missing: Coarse Face
  • Fucosidosis

    He had a coarse face, hepatomegaly and generalized spasticity.[ncbi.nlm.nih.gov]

    Missing: Mutation in the MLL Gene
  • Alpha-Mannosidosis

    She had a coarse face with flat and wide nasal bridge, hepatosplenomegaly, umbilical hernia, lumbar gibbus, motor and mental retardation and deafness.[ncbi.nlm.nih.gov] face, mental retardation, and hepatosplenomegaly.[ncbi.nlm.nih.gov] Clinical findings Macrocephaly, thickened calvaria, coarse face, macroglossia, wide-spaced teeth, prognathism, deafness, mental retardation, hepatosplenomegaly.[medical-dictionary.thefreedictionary.com]

    Missing: Mutation in the MLL Gene
  • Hypertrichotic Osteochondrodysplasia

    However, the degree and extent of facial deformity varies and the judgment of abnormality, such as “triangular” or “coarseface, hypertelorism, “nasal contour” or “short[jle.com] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[orpha.net] Abstract Cantú syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face, cardiomegaly,[karger.com]

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

    […] nasal bridge, hypoplastic philtrum and prominent jaw, low posterior hairline, and hypertrichosis.[ncbi.nlm.nih.gov] The patient had mild psychomotor delay and a peculiar facial appearance, with horizontal eyebrows with synophrys, downslanting palpebral fissures with epicanthic folds, narrow[ncbi.nlm.nih.gov]

    Missing: Mutation in the MLL Gene
  • Hypertrichosis

    Together, our results strongly support a causal relationship between the CNVs on 17q24.2-q24.3 and the CGHT with coarse face or with coarse face and gingival hyperplasia.[ncbi.nlm.nih.gov] 0004540 Double eyebrow Duplication of eyebrow 0010730 Showing of 9 Last updated: 12/1/2018 If you need medical advice, you can look for doctors or other healthcare professionals[rarediseases.info.nih.gov] An example of naevoid circumscribed hypertrichosis is the presence of a solitary and very bushy eyebrow.[dermnetnz.org]

    Missing: Mutation in the MLL Gene
  • Spondyloepimetaphyseal Dysplasia Type Bieganski

    : midface hypoplasia low frontal hairline coarse facies Head And Neck Mouth: high-arched palate[malacards.org] […] metaphyseal cupping (metacarpals and phalanges) Skeletal Pelvis: coxa vara flared iliac wings short, hypoplastic femoral necks cone-shaped capital femoral epiphyses Head And Neck Face[malacards.org]

    Missing: Mutation in the MLL Gene
  • Hajdu Cheney Syndrome

    ; coarse hair; and a short neck.[rarediseases.org] […] eyebrow over the eyes (synophrys); low-set ears, a high arched roof of the mouth (palate); a cleft palate; a small jaw (micrognathia); flattening of the middle portion of the face[rarediseases.org]

    Missing: Mutation in the MLL Gene
  • Congenital Generalized Hypertrichosis Type Ambras

    Hypertrichosis can be classified in two ways, one as acquired versus congenital and other is generalized versus localized. [5], [6] A variety of dimorphisms like triangular coarse[jisppd.com] ; presence of thick vellus hair on the upper extremities ( e.g hairy eyebrows ) • Localised hypertrichosis, • Nevoid hypertrichosis ; excessive terminal hair and is usually[impocity.blogspot.com] The dysmorphic facial features include the following: Triangular, coarse face, large intercanthal distance, broad palpebral fissures, long prominent back of the nose, round[mjdrdypu.org]

    Missing: Mutation in the MLL Gene