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389 Possible Causes for Dystrophic Toenail, Hypertrichosis of Eyebrows, Long Lashes

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    toenail Bilateral cleft lip Pili torti Anodontia Dystrophic fingernails Abnormality of hair texture Abnormality of the philtrum Cutaneous syndactyly of toes Progressive hypotrichosis[mendelian.co] Confluent eyebrows with hypertrichosis of the medial portions (synophrys) are present in 85% of patients with WS1 and in 25% of patients with WS2.[emedicine.medscape.com] […] hyperkeratosis Aplasia/Hypoplasia of the eyebrow Abnormality of the ear Hypoplasia of the zygomatic bone EEG abnormality Bilateral cleft lip and palate Sparse lateral eyebrow Dystrophic[mendelian.co]

  • 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: Dystrophic Toenail
  • 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: Dystrophic Toenail
  • Congenital Disorder of Glycosylation Type 2A
    Missing: Dystrophic Toenail
  • Coffin-Siris Syndrome
    Missing: Dystrophic Toenail
  • 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: Dystrophic Toenail
  • 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]

    Missing: Dystrophic Toenail
  • Gingival Fibromatosis-Progressive Deafness Syndrome

    […] fingernails Aplasia/Hypoplasia of the eyebrow Keratoconjunctivitis sicca Dystrophic toenail Cerebellar hypoplasia Abnormal dermatoglyphics Cutis laxa Pointed chin Accelerated[mendelian.co] Since variable expressionoccurs in autosomal dominant conditions and synophris,bushy eyebrows and hypertrichosis were not present inunaffected family members, the diagnosis[docslide.net] They had bushy eyebrows and synophrys, but no generalised hypertrichosis, were of normal intellect and had none of the syndromic associations of HGF as delineated above.[documentslide.com]

    Missing: Long Lashes
  • Pretibial Dystrophic Epidermolysis Bullosa

    […] scarring of skin Pruritus Milia Dystrophic toenail Dystrophic fingernails ...[familydiagnosis.com] Affiliated tissues include skin, and related phenotypes are dystrophic toenail and dystrophic fingernails UniProtKB/Swiss-Prot : 76 Epidermolysis bullosa dystrophica, pretibial[malacards.org] Toenail Dystrophic Fingernails Epidermolysis Bullosa Dystrophica Epidermolysis Bullosa Pretibial epidermolysis bullosa • • • Back to: « Pretibial dystrophic epidermolysis[familydiagnosis.com]

    Missing: Hypertrichosis of Eyebrows Long Lashes
  • Familial Isolated Trichomegaly

    " to describe this condition, for long lashes were at the time being portrayed in film as a desirable characteristic in women.[en.wikipedia.org] […] of eyebrows.[genecards.org] large / bulbous nose - Long / thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Mid-facial hypoplasia[csbg.cnb.csic.es]

    Missing: Dystrophic Toenail