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625 Possible Causes for Anteverted Nostril, Hypertrichosis of Eyebrows, 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: Anteverted Nostril
  • Coffin-Lowry Syndrome

    […] nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Brachydactyly Short fingers or toes 0001156 Broad finger Broad fingers Wide[rarediseases.info.nih.gov] Abnormality of dental shape Abnormally shaped teeth Deformity of teeth Dental deformity Dental malformations Malformed teeth Misshapen teeth Misshapened teeth [ more ] 0006482 Anteverted[rarediseases.info.nih.gov]

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

    Individuals may also have heart defects, an increased amount of body hair (hirsutism), and flat feet (pes planus). 0005616 Anteverted nares Nasal tip, upturned Upturned nasal[rarediseases.info.nih.gov] […] tip Upturned nose Upturned nostrils [ more ] 0000463 Bowing of the long bones Bowed long bones Bowing of long bones [ more ] 0006487 Failure to thrive Faltering weight Weight[rarediseases.info.nih.gov]

    Missing: Mutation in the MLL Gene
  • Hypertrichotic Osteochondrodysplasia

    nostrils Long philtrum Wide mouth with full lips Macroglossia High or narrow palate Gingival hyperplasia Anterior open bite Hair Congenital generalized hirsutism Thick scalp[doi.org] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[orpha.net] […] nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Broad hallux phalanx Broad bone of big toe Wide bone of big toe [ more ] 0010059[rarediseases.info.nih.gov]

    Missing: Mutation in the MLL Gene
  • Roifman Syndrome

    Offspring of those with WSS have a 50% chance of having WSS. [6] The mechanism by which mutations in the MLL gene cause the phenotype of Wiedemann–Steiner syndrome is not[en.wikipedia.org] […] that are flared forward (anteverted); a sunken (depressed) nasal bridge; and/or abnormally positioned (i.e. low-set, posteriorly rotated) ears.[rarediseases.org] […] in the MLL (also known as KMT2A ) gene on the long arm of chromosome 11. [4] The gene encodes a histone-modification enzyme — that is, it helps modify the expression of other[en.wikipedia.org]

    Missing: Hypertrichosis of Eyebrows
  • Nicolaides-Baraitser Syndrome

    Wiedemann-Steiner syndrome is autosomal dominant and is caused by heterozygous de novo mutation causing haploinsufficiency in the KMT2A gene (also known as MLL), a gene encoding[bredagenetics.com] 80%-99% of people have these symptoms Abnormality of the metacarpal bones Abnormality of the long bone of hand 0001163 Alopecia Hair loss 0001596 Anteverted nares Nasal tip[rarediseases.info.nih.gov] Cutaneous examination revealed a very fine and sparse scalp hair [Figure 4], facial hypertrichosis particularly over the forehead and temples, dense eyebrows and eyelashes[ijpd.in]

  • Hajdu Cheney Syndrome

    Clinical examination revealed short stature, coarse features, bushy eyebrows, anti-Mongoloid slant [Figure - 1], flared anteverted nostrils, dental abnormalities, short stubby[ijri.org]

    Missing: Mutation in the MLL Gene
  • Tenorio Syndrome

    Anxiety Delayed speech and language development Osteopenia Hypertrichosis Keratoconjunctivitis sicca Intellectual disability Seizures Muscular hypotonia Syncope ... ...[familydiagnosis.com] Female anorgasmia Macrocephaly Anteverted nares Ventriculomegaly Gait disturbance Pneumonia Oxycephaly Osteopenia Cervical spine instability Hypoglycemia Telecanthus Thick eyebrow[mendelian.co] Autosomal dominant inheritance Macroglossia Hydrocephalus Macrocephaly Delayed cranial suture closure Mandibular prognathia Wide nose Anteverted nares Telecanthus Thick eyebrow[familydiagnosis.com]

    Missing: Mutation in the MLL Gene
  • Early Infantile Epileptic Encephalopathy Type 23
    Missing: Mutation in the MLL Gene
  • Congenital Generalized Hypertrichosis Type Ambras

    nostrils.[mjdrdypu.org] ; 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] An example of naevoid circumscribed hypertrichosis is the presence of a solitary and very bushy eyebrow.[dermnetnz.org]

    Missing: Mutation in the MLL Gene

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