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2,648 Possible Causes for Hirsutism, 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[news-medical.net] Hum Genet 1982 Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?[pubfacts.com] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net]

  • Rubinstein-Taybi Syndrome

    Clinical findings included mental and motor retardation, patent ductus arteriosus (PDA), undescended testes, hirsutism, broad thumbs with radial angulation and broad toes,[ncbi.nlm.nih.gov] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad[ncbi.nlm.nih.gov]

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

    Individuals may also have heart defects, an increased amount of body hair (hirsutism), and flat feet (pes planus). 0005616 Anteverted nares Nasal tip, upturned Upturned nasal[rarediseases.info.nih.gov] […] susceptibility Bruise easily Easy bruisability Easy bruising [ more ] 0000978 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Generalized hirsutism[rarediseases.info.nih.gov]

    Missing: Mutation in the MLL Gene
  • Acquired Hypertrichosis Lanuginosa

    - Hirsutism L68.2 - Localized hypertrichosis L68.3 - Polytrichia L68.8 - Other hypertrichosis L68.9 - Hypertrichosis, unspecified[emedcodes.com] Hypertrichosis cubiti (hairy elbow syndrome) - AD 2. Hypertrichosis of the auricle - AD, YL 3. Hypertrichosis of the eyebrows - ? 4.[quizlet.com] Similar Codes ICD-10 Code ICD-10 Description L68 Hypertrichosis L68.0 Hirsutism L68.2 Localized hypertrichosis L68.3 Polytrichia L68.8 Other hypertrichosis L68.9 Hypertrichosis[healthprovidersdata.com]

    Missing: Mutation in the MLL Gene
  • Hypertrichosis

    Excessive hair may present as hirsutism or hypertrichosis.[termedia.pl] 0004540 Double eyebrow Duplication of eyebrow 0010730 Showing of 9 Last updated: 12/1/2018 If you need medical advice, you can look for doctors or other healthcare professionals[rarediseases.info.nih.gov] An example of naevoid circumscribed hypertrichosis is the presence of a solitary and very bushy eyebrow.[dermnetnz.org]

    Missing: Mutation in the MLL Gene
  • Lytic Bone Lesion

    SFPKS was first described in a 5-year-old female with a distinct facial appearance, proportional short stature, hirsutism, polycystic kidneys, vertebral abnormalities, elongated[nature.com] […] of the medial part of the eyebrows” is present, meaning excessive hair growth in the patients’ eyebrow region, most likely leading to a unibrow. [ 6 ] The fourth symptom,[senyawa-kimia.blogspot.com] hypertrichosis / Increased body hair - Hyperextensible joints / articular hyperlaxity - Hypoplastic mandibula / partial absence of the mandibula - Macrocephaly / macrocrania[csbg.cnb.csic.es]

    Missing: Mutation in the MLL Gene
  • Congenital Generalized Hypertrichosis Type Ambras

    More common causes of hirsutism include polycystic ovary syndrome (PCOS), idiopathic hirsutism, hyperprolactinemia, hyperthecosis, and medications (eg, danazol, androgenic[thehealthscience.com] ; presence of thick vellus hair on the upper extremities ( e.g hairy eyebrows ) • Localised hypertrichosis, • Nevoid hypertrichosis ; excessive terminal hair and is usually[impocity.blogspot.com] An example of naevoid circumscribed hypertrichosis is the presence of a solitary and very bushy eyebrow.[dermnetnz.org]

    Missing: Mutation in the MLL Gene
  • Hypertrichotic Osteochondrodysplasia

    […] syndrome Differential Diagnoses Acquired generalized hypertrichosis Congenital hypertrichosis universalis Dermatologic Manifestations of Hirsutism Dermatologic Manifestations[emedicine.medscape.com] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[orpha.net] Clinical examination showed a mentally alert, well-built girl with hypertrichosis, presenting with extremely bushy eyebrows with downy growth of hair on the cheeks, chin,[ijdr.in]

    Missing: Mutation in the MLL Gene
  • Congenital Generalized Hypertrichosis

    The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution.Hypertrichosis is classified according to age[ncbi.nlm.nih.gov] 2.1.1 hypertrichosis cubiti 2.1.2 hypertrichosis of the auricle 2.1.3 hypertrichosis of the eyebrows 2.1.4 hairy polythelia 2.1.5 anterior cervical hypertrichosis 2.2 Hamartomas[quizlet.com] An example of naevoid circumscribed hypertrichosis is the presence of a solitary and very bushy eyebrow.[dermnetnz.org]

    Missing: Mutation in the MLL Gene
  • Fetal Hydantoin Syndrome

    […] malformations due to hydantoin intake during pregnancy include digit and nail hypoplasia, growth retardation, typical facial appearance, rib anomalies, abnormal palmar creases, hirsutism[ncbi.nlm.nih.gov] […] that meet in the middle (synophrys), downturned mouth, high arched palate, hypertrichosis, long eyelashes, short limbs Dubowitz syndrome Unknown; suspected autosomal recessive[aafp.org] Digital hypoplasia, irregular ossification of the distal phalanges with nail dystrophy, coarse profuse scalp hair, hirsutism, short neck, abdominal hernias, cardiac abnormalities[healio.com]

    Missing: Mutation in the MLL Gene

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