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3,737 Possible Causes for Hypertrichosis of Eyebrows, Mutation in the MLL Gene, Scoliosis

  • Wiedemann-Steiner Syndrome

    The family decided to take fetal reduction surgery to remove the fetus with scoliosis.[] 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[]

  • Cerebro-Facio-Thoracic Dysplasia

    Otherfindings included abdominal recti muscle diastasis anddorsolumbar scoliosis.[] ), a narrow forehead and a short nose; there are also hypertrichosis (espec- ially posteriorly) and mental retardation.[] […] ductus arteriosus 0001643 Pes planus Flat feet Flat foot [ more ] 0001763 Postnatal growth retardation Growth delay as children 0008897 Ptosis Drooping upper eyelid 0000508 Scoliosis[]

    Missing: Mutation in the MLL Gene
  • Alpha-Mannosidosis

    […] features are immune deficiency (manifested by recurrent infections, especially in the first decade of life), skeletal abnormalities (mild-to-moderate dysostosis multiplex, scoliosis[] Coarse facial features and skeletal abnormalities such as scoliosis, kyphosis, pectus carinatum, genu valgum, and pes equinus may be noted at birth.[]

    Missing: Mutation in the MLL Gene
  • Rubinstein-Taybi Syndrome

    Scoliosis has not been reported as one of the extra-cranial manifestations of Rubinstein-Taybi syndrome type 2.[] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[] The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously[]

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

    […] episodes (SIDEs), facial characteristics that include wide set eyes, short nose with wide columella, full and everted lips with wide mouth and progressive skeletal changes: scoliosis[] Other clinical findings include short stature (95%), a pectus deformity (80%), a kyphosis and/or scoliosis (80%), mitral valve dysfunction, and sensorineural hearing loss.[] CONCLUSIONS: The Coffin-Lowry syndrome is a rare diagnosis in our country; neurological involvement at the spinal level is characterized by kyphosis or scoliosis; for its[]

    Missing: Mutation in the MLL Gene
  • Ataxia Telangiectasia

    Scoliosis varies from mild to severe.[] Missense mutation and defective function of ATM in a childhood acute leukemia patient with MLL gene rearrangement.[] Early and continued physical therapy has been proven to slow muscle degeneration and minimize contractures and scoliosis (Gatti, R., GeneReviews. 2010;[]

    Missing: Hypertrichosis of Eyebrows
  • Nicolaides-Baraitser Syndrome

    Other anomalies : Feeding problems, hearing loss, scoliosis, congenital heart defects, and renal anomalies. References & Further reading Van Houdt JK, et al.[] 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[] Cutaneous examination revealed a very fine and sparse scalp hair [Figure 4], facial hypertrichosis particularly over the forehead and temples, dense eyebrows and eyelashes[]

  • Fracture

    Pain Core Stability Deficiency DOMS - Delayed Onset Muscle Soreness Fibromyalgia Side Strain Bone-related Injuries Back Stress Fracture Osteoporosis Scheuermann's Disease Scoliosis[] […] effectively to conservative therapy A VCF that has been present for more than one year Greater than 80-90 percent collapse of the vertebral body Spinal curvature, such as scoliosis[]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Muscle Strain

    . * poor posture (sitting with shoulders slouched forward) * caring a heavy object (such as heavily loaded backpack or purse) * having chronic cough * having scoliosis of[]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Kabuki Syndrome

    A patient with Kabuki syndrome had revision surgery for scoliosis.[] MLL, ASC2, ASH2L, and WDR5), but no convincing causative mutations could be found.[] The patient presented with the characteristic facial features of KS and some skeletal and neurological anomalies including a butterfly vertebrae with scoliosis, cerebral atrophy[]

    Missing: Hypertrichosis of Eyebrows

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