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257 Possible Causes for Hypertrichosis of Eyebrows, Mutation in the MLL Gene, Slim Muscular Build

  • 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] A “slim and muscular build” was noted in 3/5 initial KMT2A -related WSS cases.[bmcmedgenet.biomedcentral.com] […] 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] A “slim and muscular build” was noted in 3/5 initial KMT2A -related WSS cases .[bmcmedgenet.biomedcentral.com] Wiedemann-Steiner syndrome is a rare genetic disorder resulting from mutations in the MLL (also known as KMT2A ) gene on the long arm of chromosome 11.[wssfoundation.org]

  • Eng-Strom Syndrome

    A “slim and muscular build” was noted in 3/5 initial KMT2A -related WSS cases.[bmcmedgenet.biomedcentral.com] Integumentary Hypertrichosis 5 / - Hypertrichosis cubiti 5 / - Long/thick eyelashes 5 Thick eyebrows 5 e Thick hair n.a.[bmcmedgenet.biomedcentral.com] In them the excess of hair is manifested by thick eyebrows and hair, long thick eyelashes, and the sacral hypertrichosis observed in patient 2 (Table 1 ).[bmcmedgenet.biomedcentral.com]

    Missing: Mutation in the MLL Gene
  • Autosomal Dominant Mental Retardation Type 5

    […] in the myeloid/lymphoid or mixed lineage leukemia gene (MLL, 159555.0001) Description A number sign (#) is used with this entry because mitochondrial DNA depletion syndrome[findzebra.com] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[rarediseases.org] , muscular build (in some patients); Hypotonia (in some patients) NEUROLOGIC: [Central nervous system]; Mental retardation; Seizures (1 patient); Wide-based gait; Speech delay[findzebra.com]

  • Coffin-Lowry Syndrome

    RSK2 is a growth factor-regulated serine-threonine protein kinase, acting in the Ras-Mitogen-Activated Protein Kinase (MAPK) signaling pathway. Mutations in the RSK2 gene (RPS6KA3) on chromosome Xp22.2, have been found to cause Coffin-Lowry syndrome (CLS), an X-linked disorder characterized by psychomotor[…][ncbi.nlm.nih.gov]

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

    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] , microcephaly, broad thumbs and hallux which are often angulated, hyper-extensive joints, small tilted pelvis, hypertrichosis, and undescended testes. [2] Current literature[faoj.org]

    Missing: Mutation in the MLL Gene Slim Muscular Build
  • Fucosidosis

    Fucosidosis is an extremely rare, autosomal recessive lysosomal storage disease, characterized by a deficiency of the lysosomal hydrolase alpha fucosidase. We report a case of a 6-year-old child, diagnosed with fucosidosis type 2, who presented for dental rehabilitation under general anesthesia. Anesthesia was[…][ncbi.nlm.nih.gov]

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

    ), a narrow forehead and a short nose; there are also hypertrichosis (espec- ially posteriorly) and mental retardation.[vdocuments.site] The facial appearance in the de Lange syndrome is very similar to that found in cerebro-facio-thoracic dysplasia, for there is synophrys (joining of the eyebrows in midline[vdocuments.site]

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

    - A dictionary of medical eponyms Related people David Weyhe Smith Richard E. Marshall A syndrome of motor and mental retardation, accelerated skeletal maturation, failure to thrive, and abnormal facies. The clinical course is marked mainly by pneumonia, stridor, respiratory distress, and death. The aetiology is[…][whonamedit.com]

    Missing: Mutation in the MLL Gene Slim Muscular Build
  • Alpha-Mannosidosis

    Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency.[…][en.wikipedia.org]

    Missing: Mutation in the MLL Gene Slim Muscular Build