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1,143 Possible Causes for Delayed Bone Age, 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[] Therefore, we propose that both of advanced bone age and delayed bone age are authentic phenotype of WDSTS caused by KMT2A variation.[] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[]

  • Coffin-Lowry Syndrome

    Patients are usually short with delayed bone age; joints are hyperextensible. The cognitive function of affected males is usually severely impaired.[] Involvement of the musculoskeletal system presents as short thorax, bifid sternum, pectus excavatum or carinatum, vertebral dysplasia, kyphosis, scoliosis, delayed bone age[]

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

    Additional observations include maternal pre-eclampsia (2/9), syndactyly (3/9), feeding or swallowing issues (3/9), delayed bone age (2/9) and scoliosis (2/9).[] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[] bone age) • Broad nasal bridge • Malformed ears • High arched palate • Extra fold of skin on either side of the nose • Small head (microcephaly) • Small lower jaw • Flat[]

    Missing: Mutation in the MLL Gene
  • Schwartz-Jampel Syndrome

    […] maturation delay.[] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[] Two types have been defined by the age of manifestation of the symptoms: the severe neonatal form, sometimes called type 2, and clinically indistinguishable from the Stuve[]

    Missing: Mutation in the MLL Gene
  • SHORT Syndrome

    bone age, delayed speech, normal intellect, glucose intolerance, and insulinopenic diabetes.[] We and others noticed that some patients had features reminiscent of CdLS, particularly where facial hypertrichosis and prominent eyebrows were present.[] Additionally, the patients usually present a low birth weight and height, lipodystrophy, delayed bone age, hernias, low body mass index and a progeroid appearance.[]

    Missing: Mutation in the MLL Gene
  • Vitamin D Deficiency

    She presented with fractures during the first year-of-life followed by bone deformities, delayed development, failure-to-thrive, and pneumonias.[] […] tooth eruption (no incisors by aged 10 months, no molars by age 18 months) - Craniotabes (softening of skull bones) - Delayed closure of anterior fontanelle - Frontal bossing[] At 1 year-of-age, biochemical studies of serum revealed marked hyperphosphatasemia together with low-normal calcium and low inorganic phosphate and 25-hydroxyvitamin D levels[]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Hypertrichotic Osteochondrodysplasia

    bone age; [Skull]; Widened posterior fossa; Enlarged sella; [Spine]; Platyspondyly; Ovoid-shaped vertebral bodies (childhood); Cuboid-shaped vertebral bodies (post-puberty[] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[] Generalized osteopenia, delayed bone age, and craniosynostosis have also been described. Figure 1 A, B, C.[]

    Missing: Mutation in the MLL Gene
  • Acrootoocular Syndrome

    bone age Skeletal Feet: small feet widely spaced 1st-2nd toes zygodactyly short 3rd-4th toes protruding calcaneus Growth Weight: birthweight Abdomen Gastrointestinal: multiple[] A down sloping V-shaped configuration of the eyebrows as they met and extended onto the upper part of the nasal bridge is common. Brow hypertrichosis may be observed.[] bone age; and intellectual disability.[]

    Missing: Mutation in the MLL Gene
  • Qazi-Markouizos Syndrome

    Symptoms - Qazi Markouizos syndrome Some of the symptoms of Qazi Markouizos syndrome incude: * Chronic constipation * Severe psychomotor retardation * Seizures * Delayed bone[] The coarse facial features and hypertrichosis of the eyebrows may not be present at birth but may develop after early infancy.[] bone age Abnormal bone development Abnormal dermatoglyphics Abnormality of bone mineral density Cognitive impairment Constipation Cryptorchidism Highly arched eyebrow Hypertelorism[]

    Missing: Mutation in the MLL Gene
  • Diabetes Mellitus Type 1

    Bone age delay was more pronounced in boys, and in children with long-term median HbAlc levels of 7.5 - 9.0%.[] Bone age was retarded by -0.27 /- 1.1 years in the whole group, but particularly in the adolescents at the end of puberty ( 16 years; -0.76 /- 1.29y).[] Data on somatic development in diabetic children are conflicting; therefore we studied bone age in 1788 children from Germany and Austria with type 1 diabetes.[]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene

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