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710 Possible Causes for Beaked Nose, 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] Bilateral ptosis Cervical platyspondyly Mandibular prognathia Anterior beaking of thoracic vertebrae Camptodactyly Pachygyria Decreased fetal movement Nephropathy Paraplegia[mendelian.co] […] 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] Figure 1: (a) Extraoral view showing frontal bossing, hypertelorism, wide nasal bridge and macrostomia; (b) Profi le view showing cochlear implant and beak-shaped nose; (c[jomfp.in] Integumentary Hypertrichosis 5 / - Hypertrichosis cubiti 5 / - Long/thick eyelashes 5 Thick eyebrows 5 e Thick hair n.a.[bmcmedgenet.biomedcentral.com]

  • Rubinstein-Taybi Syndrome

    A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad[ncbi.nlm.nih.gov] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] Extra oral features revealed distinctive facial appearance with a broad fore head, hypertelorism, broad nasal bridge and beaked nose.[ncbi.nlm.nih.gov]

    Missing: Mutation in the MLL Gene
  • Ring Chromosome 4

    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[hoajonline.com] Seckel syndrome is a rare entity characterized by marked growth retardation, microcephaly, facies characterized by receding forehead and chin, large beaked nose, and severe[ncbi.nlm.nih.gov] * Beaked nose * Short philtrum * Epicanthal folds * Highly arched palate * Cleft palate * Tooth enamel hypoplasia * Clinodactyly * Thumb aplasia * Thumb hypoplasia * Abnormal[checkorphan.org]

    Missing: Hypertrichosis of Eyebrows
  • Bangstad Syndrome

    The most common symptoms of this syndrome would be short stature, goiter, diabetes, ataxia, deafness, small head, mental retardation, beaked nose, clubfoot, undescended testes[symptoms.in] Nephrolithiasis Abnormality of the genital system Long toe Dermal atrophy Hypertrichosis Umbilical hernia Premature loss of teeth Abnormally large globe Brittle hair Delayed[mendelian.co] nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Deeply set eye Deep set eye Deep-set eyes Sunken eye [ more ] 0000490 Deviation of finger[rarediseases.info.nih.gov]

    Missing: Mutation in the MLL Gene
  • Autosomal Dominant Prognathism

    Crouzon disease - craniostosis with widening of the skull and high forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla.[medical-dictionary.thefreedictionary.com] […] congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows[mendelian.co] Craniofacial Dysostosis An autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla with[bioportfolio.com]

    Missing: Mutation in the MLL Gene
  • Cerebro-Facio-Thoracic Dysplasia

    nose with or without nasal septum extending below alae nasi (100%), thumbs are broad, occasionally bifid, cardiac defects in 25%, broad great toes in 100%, ear infections[en.wikibooks.org] ), a narrow forehead and a short nose; there are also hypertrichosis (espec- ially posteriorly) and mental retardation.[vdocuments.site] […] postnatal growth retardation, cardiac defects, DD Rubinstein-Taybi syndrome Microcephaly, antimongoloid eye slant, hypertelorism, long eyelashes, milt ptosis, prominent and/or beaked[en.wikibooks.org]

    Missing: Mutation in the MLL Gene
  • Congenital Disorder of Glycosylation Type 2A
    Missing: Mutation in the MLL Gene
  • Arterial Tortuosity Syndrome

    Other typical manifestations are dysmorphic features (including an elongated face, micrognathia, a high palate, and a beaked nose), soft and hyperextensible skin, cutis laxa[orpha.net] nose with soft cartilage; a high, arched roof of the mouth (palate); a small lower jaw ( micrognathia ); and large ears.[ghr.nlm.nih.gov] nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Cutis laxa Loose and inelastic skin 0000973 Downslanted palpebral fissures Downward slanting[rarediseases.info.nih.gov]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Systemic Scleroderma

    Face Matt telangiectases on face, chest, palms Peri-oral furrowing (fat loss) Microstomia (limited oral aperture defined as interlabial distance 4.5 cm) Beaked nose Other[dermnetnz.org]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene

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