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5,171 Possible Causes for Growth Failure, Hypertrichosis of Eyebrows, Mutation in the MLL Gene

  • Wiedemann-Steiner Syndrome

    […] to thrive Faltering weight Weight faltering [ more ] 0001508 Flat face Flat facial shape 0012368 Global developmental delay 0001263 High palate Elevated palate Increased[rarediseases.info.nih.gov] 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]

  • Genee-Wiedemann Syndrome

    […] delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Low-set ears Low set ears Lowset ears [ more ] 0000369[rarediseases.info.nih.gov] Wiedemann-Steiner syndrome results from a mutation in the MLL (also known as KMT2A ) gene on the long arm of chromosome 11 .[wiedemannsteiner.com] Integumentary Hypertrichosis 5 / - Hypertrichosis cubiti 5 / - Long/thick eyelashes 5 Thick eyebrows 5 e Thick hair n.a.[bmcmedgenet.biomedcentral.com]

  • Rubinstein-Taybi Syndrome

    Growth retardation and postnatal growth failure are present in the majority of patients.[symptoma.com] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously[ncbi.nlm.nih.gov]

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

    Smith: Syndrome of accelerated skeletal maturation and relative failure to thrive: A newly recognized clinical growth disorder. Journal of Pediatrics, St.[whonamedit.com] It is hoped that the etiology of the syndrome will be discovered as more cases are recognized and reported by pediatricians caring for infants with failure to thrive, advanced[ncbi.nlm.nih.gov] Aggressive treatment for failure to thrive has also allowed her to maintain a weight on the 50th centile.[ncbi.nlm.nih.gov]

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

    ., Children's Hospital Ontario: 1/40,000 to 1/50,000 Clinical Features [ edit ] Growth Failure Prenatally, growth is normal Postnatal growth failure occurs early Males usually[en.wikibooks.org] Growth. Prenatal growth is normal; growth failure usually occurs early in the postnatal period.[ncbi.nlm.nih.gov] Other findings can include failure to thrive, feeding difficulties, short stature, ophthalmologic abnormalities, microcephaly and hearing loss.[dnatesting.uchicago.edu]

    Missing: Mutation in the MLL Gene
  • Fucosidosis

    A 7-year-old female patient was admitted to our outpatient clinic with complaints of failure to thrive, loss of acquired motor skills, and generalized dystonia.[annalsofian.org]

    Missing: Mutation in the MLL Gene
  • Warburg Micro Syndrome 3

    Affected infants exhibit growth failure and may have diminished muscle tone (hypotonia) so that they appear floppy.[rarediseases.org] Clinical features also included microcephaly, frontal hypertrichosis, sparse and up-slanted eyebrows, hypotelorism, short palpebral fissures, bulbous nose, arched palate,[omicsonline.org] He had microcephaly, narrow face, sparse eyebrows, frontal hypertrichosis, palpebral pseudoptosis, ogival palate, bulbous nose, short philtrum, asymmetric large ears and tapering[omicsonline.org]

    Missing: Mutation in the MLL Gene
  • Kabuki Syndrome

    failure, Growth retardation, Lack of growth, Physical retardation 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS 319 Unspecified[genedx.com] MLL, ASC2, ASH2L, and WDR5), but no convincing causative mutations could be found.[ncbi.nlm.nih.gov] If the stature is normal at birth, neonates soon present with growth delay and frequent failure to thrive of variable severity. Microcephaly is inconstant.[orpha.net]

    Missing: Hypertrichosis of Eyebrows
  • SHORT Syndrome

    Hyperphagic short stature is a behavioural disease associated with linear growth failure, secondary to growth hormone insufficiency.[patient.info] We and others noticed that some patients had features reminiscent of CdLS, particularly where facial hypertrichosis and prominent eyebrows were present.[nature.com] Growth disorders include: Failure to thrive, which isn't a specific growth disorder itself, but can be a sign of an underlying condition causing growth problems.[m.kidshealth.org]

    Missing: Mutation in the MLL Gene
  • Microcephaly

    KEYWORDS: Ashkenazi-Jewish; Growth failure; Intellectual disability; Microcephaly; QARS[ncbi.nlm.nih.gov] Characteristic facial features included micrognathia, a thin upper lip and long philtrum, narrow almond-shaped palpebral fissures, synophrys, flared eyebrows and facial hypertrichosis[ncbi.nlm.nih.gov] Failure to thrive and mild facial dysmorphic features were also present.[ncbi.nlm.nih.gov]

    Missing: Mutation in the MLL Gene

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