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1,495 Possible Causes for Hypertrichosis of Eyebrows, Mutation in the MLL Gene, Tall Stature

  • 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[] stature Overgrowth Large hands Sparse eyebrow Long fingers Disproportionate tall stature Long foot Prominent nasal bridge Communicating hydrocephalus Long neck Expressive[] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[]

  • Marshall-Smith Syndrome

    stature Increased body height 0000098 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Umbilical hernia 0001537[] 0009882 Short mandibular rami 0003778 Short philtrum 0000322 Short sternum 0000879 Sporadic No previous family history 0003745 Synophrys Monobrow Unibrow [ more ] 0000664 Tall[]

    Missing: Mutation in the MLL Gene
  • Klinefelter Syndrome

    These patients usually present with tall stature. We report a case of KS with short stature due to growth hormone deficiency.[] Physical examination revealed tall stature, thin built, small testes size, and absence of beard and pubic hairs.[] They tend to have tall stature and long legs and may have difficulties with speech and language development.[]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • 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 .[] Genetic analysis of tall stature. Horm Res 2005;64:149-56. 6. Wang J, Goodger NM, Pogrel MA. The role of tongue reduction.[] Integumentary Hypertrichosis 5 / - Hypertrichosis cubiti 5 / - Long/thick eyelashes 5 Thick eyebrows 5 e Thick hair n.a.[]

  • Marfan Syndrome

    It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and sublaxation of the lens A hereditary disorder[] A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature.[] Her father, aunt and grandfather were of tall stature, characteristic of Marfan syndrome. On systemic evaluation, the patient was diagnosed as Marfan syndrome.[]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Pneumothorax

    statur e ) (e.g., in Marfan syndrome ) Smoking : 90% of cases ; up to 20-fold increase in risk (risk increases with cumulative number of cigarettes smoked) Homocystinuria[] Tall stature and low body mass index are also associated with higher rates of PSP.[] Spontaneous pneumothorax Primary ( idiopathic or simple pneumothorax) Ruptured su bpleural apical blebs Risk factors Family history Male gender Asthenic body habitus ( slim, tall[]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Spontaneous Pneumothorax

    Risk Factors See Primary Spontaneous Pneumothorax regarding body habitus Tall Stature Low BMI See Secondary causes above Tobacco Abuse Increases the risk of both primary and[] Tall stature and low body mass index are also associated with higher rates of PSP.[] (tall, thin) Familial pneumothorax Genetic disorders To elaborate, PSP is strongly related to smoking in both sexes; with the risk increasing by more than 20-fold in men[]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Gonadal Dysgenesis

    We describe a girl in whom tall stature was a dominant feature. Case report: A girl was referred aged 15.6 years with primary amenorrhoea and slim build.[] Using whole exome sequencing and comparative genome hybridization array, we identified a de novo MLL/KMT2A gene nonsense mutation which explains the WDSTS phenotype.[] Narayanan VK, Tolmie J, Donaldson M. 46, XX pure gonadal dysgenesis with tall stature due to an Xq21. 2 deletion. 2013;33:52. 6. Pertusa S, Palacios A.[]

    Missing: Hypertrichosis of Eyebrows
  • Rubinstein-Taybi Syndrome

    CADASIL NGS panel HTRA1, NOTCH3 Del Dup NGS Caffey disease COL1A1 Del Dup NGS Campomelic dysplasia SOX9 Del Dup NGS Camptodactyly, tall stature, and hearing loss syndrome[] 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
  • Gigantism

    This boy appears likely to have neurofibromatosis type 1 (NF1) which raises the question of subtle GH excess in NF1 patients with tall stature.[] Most common causes of tall stature/growth acceleration Normal variant genetic tall stature Endocrine abnormalities Precocious puberty Hyperthyroidism Gigantism Exogenous obesity[] Convert to ICD-10-CM : 253.0 converts approximately to: 2015/16 ICD-10-CM E22.0 Acromegaly and pituitary gigantism Approximate Synonyms Acromegaly Constitutional tall stature[]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene

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