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1,038 Possible Causes for Curled Eyelashes, Elbow Contracture, Round Face in Infancy

  • Goldberg-Shprintzen Syndrome

    […] of the hip, elbows and knees, ulnar deviation of the hands, radial deviation of the thumbs, short broad thumbs, proximally placed thumbs, adducted thumbs (positional), 1[ojrd.biomedcentral.com] Note hypertelorism and curled eyelashes and clouding of the cornea at the age of 12 years. (Below) Patient V.9 at 8 months and 7 years.[jmg.bmj.com] Features more commonly described in GSS include cleft palate, ptosis, synophrys, arched eyebrows, curled eyelashes, and ocular coloboma. 11, 12, 14, 16– 22 The underlying[jmg.bmj.com]

  • Cold-Induced Sweating Syndrome Type 1

    He has bilateral elbow and bilateral finger contractures.[neurology.org] face in infancy Anteverted nares (upturned nose) Low-set ears Puckered chin Short neck Pursed lips (see photos); may resolve with time Blepharospasm (sustained, forced closing[forgottendiseases.org] […] of the elbows.[nature.com]

    Missing: Curled Eyelashes
  • Mowat-Wilson Syndrome

    […] of the hip, elbows and knees, ulnar deviation of the hands, radial deviation of the thumbs, short broad thumbs, proximally placed thumbs, adducted thumbs (positional), 1[ojrd.biomedcentral.com] Features more commonly described in GSS include cleft palate, ptosis, synophrys, arched eyebrows, curled eyelashes, and ocular coloboma. 11, 12, 14, 16– 22 The underlying[doi.org] In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com]

  • Familial Hypospadias

    […] of the hip, elbows and knees, ulnar deviation of the hands, radial deviation of the thumbs, short broad thumbs, proximally placed thumbs, adducted thumbs (positional), 1[ojrd.biomedcentral.com] In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com] eyelashes, palpebral ptosis, and cleft palate are commonly observed) [ 45 , 46 ].[ojrd.biomedcentral.com]

  • Congenital Iris Coloboma

    […] of the hand Overfolded helix Reduced number of teeth Pyloric stenosis Deep philtrum Dermal atrophy Nasal speech Elbow flexion contracture Short thumb Microdontia Microtia[mendelian.co] In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com] […] absence of toe Cystic liver disease Urethral obstruction True hermaphroditism Large placenta Postnatal growth retardation Neurological speech impairment Hamartoma Joint contracture[mendelian.co]

  • Emery-Dreifuss Muscular Dystrophy Type 1

    People affected with EDMD often have flexion contractures of the elbows and ankles. Elbow contractures force the elbow to remain bent at an angle.[mda.org.au] AD/Fam Rigid spine coil 1a B 15/M Contractures of elbows and Achilles tendons 1 Rod domain Del GAG 334-336 Del E112 AD/Spor Rigid spine coil 1b C 12/M Contractures of elbows[academic.oup.com] Contractures of the elbow, flexors, neck flexors, and calf muscles often occur; muscle pseudohypertrophy and mental retardation do not occur. A cardiomyopathy is common.[medical-dictionary.thefreedictionary.com]

    Missing: Curled Eyelashes Round Face in Infancy
  • Emery-Dreifuss Muscular Dystrophy Type 2

    AD/Fam Rigid spine coil 1a B 15/M Contractures of elbows and Achilles tendons 1 Rod domain Del GAG 334-336 Del E112 AD/Spor Rigid spine coil 1b C 12/M Contractures of elbows[academic.oup.com] Gilchrist and Leshner Contractures were present in the elbows, finger flexors, spine, and Achilles tendons.[gualdetxumbtt.club] People affected with EDMD often have flexion contractures of the elbows and ankles. Elbow contractures force the elbow to remain bent at an angle.[mda.org.au]

    Missing: Curled Eyelashes Round Face in Infancy
  • Weaver Syndrome

    […] of the hand 0009473 Kyphosis Hunched back Round back [ more ] 0002808 Limited elbow extension Decreased elbow extension Elbow limited extension Limitation of elbow extension[rarediseases.info.nih.gov] […] hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hydrocele testis 0000034 Hypertonia 0001276 Hypoplastic iliac wing 0002866 Inverted nipples 0003186 Joint contracture[rarediseases.info.nih.gov]

    Missing: Curled Eyelashes
  • Joint Contracture

    Reoperation was performed in 5 of 25 subjects; in 3 of which, this was because of elbow joint contracture.[ncbi.nlm.nih.gov] He developed craniosynostosis, craniofacial dysmorphism, hydrocephalus, and bilateral contracture of his elbow joints.[ncbi.nlm.nih.gov] Symptoms of Elbow Contracture include the following: Stiffness of the elbow Inability to fully extend or flex the arm Usually no pain is associated with elbow contractures[ypo.education]

    Missing: Curled Eyelashes Round Face in Infancy
  • Stuve-Wiedemann Syndrome

    Other features might be seen such as: elbow contractures, talipes valgus, spinal deformities, flared iliac wings, hypoplasia of the lower ilia, micrognathia, hypotonia and[radiopaedia.org] […] flexion contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Genu valgum Knock knees 0002857 Impaired pain sensation Decreased pain sensation[rarediseases.info.nih.gov] […] features of this syndrome include bowing of the long bones (campomelia) with lower limbs affected more than the upper limbs leading to short stature, and permanently flexion contracture[radiopaedia.org]

    Missing: Curled Eyelashes Round Face in Infancy

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