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1,265 Possible Causes for Dysmorphic Face, Mutation in the LMBR1 Gene, Syndactyly between Adjacent Toes

  • Pallister-Hall Syndrome

    ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[brighthub.com] […] and optic nerve problems, among other symptoms Hypopituitarism (a condition in which the pituitary gland underproduces certain hormones) Polydactyly (extra fingers and/or toes[brighthub.com]

    Missing: Mutation in the LMBR1 Gene
  • Craniosynostosis Type 3

    It can include: long narrow face with facial dysmorphisms, congenital cataract, blepharophimosis, dental anomalies, syndactyly, cardiopathy, cleft palate, renal and genital[bredagenetics.com] Crouzon craniofacial dysostosis (OMIM 123500) involves only the face and skull.[rrnursingschool.biz] The distinguishing dysmorphism consists in underdevelopment of the midfacial bones, resulting in shallow orbits with ex-ophthalmos, and prognathism with inverted dental occlusion[rrnursingschool.biz]

    Missing: Mutation in the LMBR1 Gene
  • Syndactyly

    Clinical Information A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[icd9data.com] Type III results from mutation in the gene encoding GJA1. Mutations in gene that encodes for LMBR1 caused type IV.[symptoma.com] A recent report suggested midfacial dysmorphism in two patients with CLS ().[ncbi.nlm.nih.gov]

  • Klinefelter Syndrome

    Klinefelter syndrome is a genetic disorder associated with male hypogonadism, gynecomastia and reduced fertility. Other symptoms include erectile dysfunction, osteoporosis, language and learning impairment and behavioral problems. Hypogonadism gynecomastia and infertility are the most common symptoms that suggest a[…][symptoma.com]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Marfan Syndrome

    The Marfan syndrome is an inherited disorder of the connective tissue which is mainly caused by a mutation in the fibrillin-1 gene. The defect in the connective tissue protein can lead to several organ dysfunctions. For the life expectancy, the cardiovascular aspect is of paramount importance. Patients with Marfan[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Skeletal Dysplasia

    Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”?.[nature.com]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Patau Syndrome

    Please log in to edit this article. Edit Synonym: Trisomy 13, Bartholin-Patau-Syndrome German : Trisomie 13, Pätau-Syndrom 1 Definition The Patau syndrome, also known as trisomy 13, is a malformation syndrome that is caused by a numerical chromosome aberration. A separation error during the meiosis leads to there[…][flexikon.doccheck.com]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Growth Hormone Deficiency

    Abstract Growth hormone deficiency (GHD) diagnosed in childhood may persist into adult life. After attainment of final height, retesting of the patient's growth hormone-insulin-like growth factor (GH-IGF) axis using the adult GHD diagnostic criteria should be performed after an appropriate interval of 1-3 months off[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Laron Syndrome

    The siblings had typical dysmorphic facies: frontal bossing, shallow orbit with blue sclera, saddle nose, mid-face hypoplasia, thin and silky hair and pale texture of skin[pubs.sciepub.com]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Bloom Syndrome

    , and "typical" erythematous sun-sensitive skin lesions of the face.[ncbi.nlm.nih.gov] Characteristic findings on physical examination The hallmark physical features are proportionate dwarfism, facial dysmorphisms including narrow face, small mandible, prominent[clinicaladvisor.com] […] syndrome is an autosomal recessive condition characterized by severe pre- and postnatal growth deficiency, immunodeficiency, an increased risk for malignancies, craniofacial dysmorphisms[ncbi.nlm.nih.gov]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes