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479 Possible Causes for Brachymesophalangy, Hypertrichosis of Eyebrows, Long Lashes

  • Wiedemann-Steiner Syndrome

    Affected individuals had long lashes, wide-set eyes, arched brows, a long philtrum (the space between the nose and the upper lip), short nose, low-set ears and a high palate[geneticliteracyproject.org] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net] Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.[uniprot.org]

  • Rubinstein-Taybi Syndrome

    lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[genedx.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: Brachymesophalangy
  • 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: Brachymesophalangy
  • Roifman Syndrome

    […] philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ...[databases.lovd.nl] Dunnen 00207833 26522830-FamK2 PubMed: Merico 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - 0 - - RFMN see paper; markedly long[databases.lovd.nl]

    Missing: Hypertrichosis of Eyebrows
  • Brachydactyly

    […] expressed the characteristic radiographic findings are shortening of all the metacarpals, greatest in the thumb, followed by the little, ring, middle, and index fingers; brachymesophalangy[ncbi.nlm.nih.gov] This individual had hypertrichosis and synophyrys whereas the others had sparse eyebrow and temporal hair.[disorders.eyes.arizona.edu] Brachydactyly type C (BDC), a well-recognized autosomal dominant hand malformation, displays brachymesophalangy of the second, third, and fifth fingers, a short first metacarpal[ncbi.nlm.nih.gov]

    Missing: Long Lashes
  • Congenital Disorder of Glycosylation Type 2A
    Missing: Brachymesophalangy
  • Coffin-Siris Syndrome
    Missing: Brachymesophalangy
  • Hajdu Cheney Syndrome

    The full text of this article hosted at iucr.org is unavailable due to technical difficulties. Brief Report Mutations in NOTCH2 in families with Hajdu‐Cheney syndrome † Mark E. Samuels Corresponding Author E-mail address: mark.e.samuels@umontreal.ca Centre de Recherche de l'Hôpital Ste‐Justine, 3175, Cote Ste‐Catherine,[…][onlinelibrary.wiley.com]

    Missing: Brachymesophalangy
  • Kabuki Syndrome

    Musculo-skeletal anomalies include brachydactyly V, brachymesophalangy, clinodactyly of fifth digits, spine abnormalities and joint hypermobility and dislocations.[orpha.net] Lashes NR NR NR NR Blue Sclerotic NR 36% 29% 17% Thin upper lip and thick lower lip NR NR NR 71% High palate with fissure 79% 69% 63% 50% Anomalous dentition 78% 71% 80%[eyewiki.aao.org] […] eye lashes,etc.)[healthzene.com]

    Missing: Hypertrichosis of Eyebrows
  • Blepharofacioskeletal Syndrome

    2 and 5 Brachymesophalangy mesomelic short limbs osseous anomalies Brachymesophalangy type 2 Brachymetapody anodontia hypotrichosis albinoidism Brachymorphism onychodysplasia[bioreference.net] TRICHOMEGALY (LONG LASHES) 1. Associated with cataract and hereditary spherocytosis 2.[dentisty.org] Brachydactyly type A7 Brachydactyly type B Brachydactyly type C Brachydactyly type E Brachydactyly types B and E combined Brachym-Brachyt Brachymesomelia renal syndrome Brachymesophalangy[wikidoc.org]

    Missing: Hypertrichosis of Eyebrows

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