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42 Possible Causes for Mutation in the Cytokine-Like Factor 1 Gene, Round Face in Infancy

  • Cold-Induced Sweating Syndrome 1

    We report here on three patients from two related families harboring a homozygous mutation in the cytokine receptor-like factor-1 (CRLF1) gene.[ingentaconnect.com] 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] […] in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. ( 17436251 ) Dagoneau N....Cormier-Daire V. 2007 10 Crisponi syndrome[malacards.org]

  • Crisponi Syndrome

    Molecular analysis revealed a homozygous mutation in cytokine receptor-like factor-1 gene in the patient.[ncbi.nlm.nih.gov] 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] We report here on three patients from two related families harboring a homozygous mutation in the cytokine receptor-like factor-1 (CRLF1) gene.[ncbi.nlm.nih.gov]

  • Weaver Syndrome

    Sugammadex is a cylodextrin derivate that encapsulates steroidal neuromuscular blocker agents and is reported as a safe and well-tolerated drug. In this case report, we present a patient who developed grade 3 anaphylaxis just after sugammadex administration. A 22-year-old woman with diagnosis of Weaver syndrome[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the Cytokine-Like Factor 1 Gene
  • XXXXY Syndrome

    face in infancy,(Look very much like a cherub) coarse features in older age, hypertelorism, epicanthal folds, prognathism, gynecomastia (rare), congenital heart defects ([web.archive.org] Other features include severely impaired speech, behavioral problems, short or broad neck, low birth weight, hyperextensible joints, short stature, round face in infancy,[web.archive.org] face in infancy [4] See also Edit Turner syndrome Klinefelter syndrome 49, XXXXX, a similar syndrome related to females References Edit 1.0 1.1 What is XXXXY syndrome?[psychology.wikia.com]

    Missing: Mutation in the Cytokine-Like Factor 1 Gene
  • Autistic Disorder

    Her clinical features included hypotonia and feeding difficulties during infancy, coarse face with notably prominent forehead, prominent eyebrows, broad flat nasal bridge[ncbi.nlm.nih.gov] […] and round cheeks, small hands and feet with bilateral brachymetaphalangism, proximal implantation of the thumbs and short toenails, mild mental retardation and autistic behaviour[ncbi.nlm.nih.gov]

    Missing: Mutation in the Cytokine-Like Factor 1 Gene
  • Pseudopseudohypoparathyroidism

    A 62 year old man with a height of 171.5 cm, a round face, a short neck, central obesity and brachydactyly had normal ranges of serum calcium, phosphorus and PTH and a normal[e-enm.org] MC4R mutations cause morbid obesity starting in infancy, as well as an elevated leptin level.[e-enm.org]

    Missing: Mutation in the Cytokine-Like Factor 1 Gene
  • Glycogen Storage Disease Type 1

    Infants have a round “doll” face.[clinicaladvisor.com] Untreated or inadequately treated patients exhibit muscle weakness and failure to thrive in infancy, whereas older children show poor growth and delayed puberty.[clinicaladvisor.com]

    Missing: Mutation in the Cytokine-Like Factor 1 Gene
  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    Infants have a round “doll” face.[clinicaladvisor.com] Untreated or inadequately treated patients exhibit muscle weakness and failure to thrive in infancy, whereas older children show poor growth and delayed puberty.[clinicaladvisor.com]

    Missing: Mutation in the Cytokine-Like Factor 1 Gene
  • Glycogen Storage Disease due to GLUT2 Deficiency

    Infants have a round “doll” face.[clinicaladvisor.com] Untreated or inadequately treated patients exhibit muscle weakness and failure to thrive in infancy, whereas older children show poor growth and delayed puberty.[clinicaladvisor.com]

    Missing: Mutation in the Cytokine-Like Factor 1 Gene
  • Glycogen Storage Disease Type 3

    Infants have a round “doll” face.[clinicaladvisor.com] Untreated or inadequately treated patients exhibit muscle weakness and failure to thrive in infancy, whereas older children show poor growth and delayed puberty.[clinicaladvisor.com]

    Missing: Mutation in the Cytokine-Like Factor 1 Gene

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