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62 Possible Causes for Mutation in the LMBR1 Gene, Pituitary Aplasia or Dysplasia, 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] […] cerebral anomalies holoprosencephaly hypothalamic hamartoblastoma pituitary aplasia or dysplasia endocrine anomalies pan hypopituitarism adrenal gland hypoplasia thyroid[humpath.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

    BACKGROUND: Though the foramen magnum (FM) is often altered in complex craniosynostosis, no study analysed the FM dimensions in patients with brachycephaly specifically. PATIENTS AND METHODS: We measured the FM area, sagittal and transverse diameters on preoperative CT scans in patients with bicoronal synostosis[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the LMBR1 Gene Pituitary Aplasia or Dysplasia
  • Syndactyly

    Type III results from mutation in the gene encoding GJA1. Mutations in gene that encodes for LMBR1 caused type IV.[symptoma.com] Clinical Information A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[icd9data.com] Analysis of three candidate genes, LMBR1, SHH and ZRS, failed to identify any pathogenic mutations.[dx.doi.org]

    Missing: Pituitary Aplasia or Dysplasia
  • Growth Failure

    The abnormalities found were pituitary gland hypoplasia or aplasia, ectopic pituitary gland, septooptic dysplasia, isolated absence of septum pellucidum, stalk abnormalities[academic.oup.com]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Syndactyly, Type 4

    […] of webbing between adjacent toes.[omicsonline.org] Disease-causing mutations are located in intron 5 of LMBR1.[uniprot.org] It may involve fusion of the soft tissues with or without bony fusion; cutaneous syndactyly of the toes is soft-tissue continuity in the anterior/posterior axis between adjacent[omicsonline.org]

    Missing: Pituitary Aplasia or Dysplasia
  • Adrenal Insufficiency

    […] and hypothalamic lesions Tumors Inflammation Infections Autoimmune lesions Granulomatios infilitration Trauma Congenital aplasia, hypoplasia, dysplasia, ectopy Pituitary-hypothalamic[web.archive.org] Glucocorticoid antagonists (RU 486) Secondary adrenal insufficiency Following discontinuation of exogenous glucocorticoids or ACTH Following the cure of Cushing's syndrome Pituitary[web.archive.org]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Thyrotoxicosis Factitia

    […] or dysplasia Thyroid hormone biosynthetic defects Iodine deficiency or excess Use of antithyroid drugs Inherited enzymatic defects Goiter Chronic autoimmune (Hashimoto's)[glowm.com] […] thyroiditis Endemic goiter Infiltrative disease Secondary Hypothyroidism Pituitary disease Hypothalamic disease Generalized thyroid hormone resistance Transient hypothyroidism[glowm.com] […] thyroid tissue Primary idiopathic hypothyroidism or primary thyroid atrophy Post- 131 I ablation Postsurgical ablation Postexternal radiation Congenital sporadic thyroid aplasia[glowm.com]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Acro-Pectoral Syndrome

    […] in the human LMBR1 gene ( C7orf2 ), and we are currently screening for such a mutation in the family we report here.[jmg.bmj.com] Note added in proof A homozygous loss of function mutation in LMBR1 has now been shown to be responsible for the congenital limb malformation acheiropodia, confirming the[jmg.bmj.com] , rather than a regulatory mutation in Shh, as originally proposed. 19 These exciting new findings strongly suggest that PPD2/3 and TPT-PS are caused by regulatory mutations[jmg.bmj.com]

    Missing: Pituitary Aplasia or Dysplasia Syndactyly between Adjacent Toes
  • Central Precocious Puberty

    Cerebellar hypoplasia, schizencephaly, aplasia of the fornix, encephalocele, and cortical dysplasia were also reported in SOD patients [ 1 - 3 ].[omicsonline.org] As our patient showed optic nerve hypoplasia and pituitary dysfunction, a diagnosis of SOD was settled.[omicsonline.org]

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

    . • SOD (septo-optic dysplasia) • Cleft lip & Palate • Empty sella syndrome • Horencephaly and anencephaly • Pituitary hypoplasia & aplasia • Thin or absent pituitary stalk[slideshare.net]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes