In the present case, the nutritional intervention did not reverse weight loss after birth due to feeding difficulty and emaciation. [frontiersin.org]

Short stature, microcephaly, childhood hypotonia and plagiocephaly were also present. Conclusion. Kleefstra syndrome 2 is a difficult diagnosis of a rare condition with a high clinical phenotypic heterogeneity. [pubmed.ncbi.nlm.nih.gov]

Acronym KLEFS2 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Screening tests for other associated phenotypic presentations were done. Echocardiogram and renal ultrasound were negative. [hindawi.com]

[…] fingers, unusually positioned feet) Hearing impairment Strabismus (squint) or other unusual eye features Kidney anomalies Connective tissue disorders, including lax joints and hernias Dental anomalies Anal atresia (the normal opening for the anus is not present [kleefstrasyndrome.org]

• Recurrent Respiratory Infections

  Scoliosis, short stature, microcephaly, recurrent respiratory infections, phenylketonuria, hypospadias, dry skin, and hoarseness were reported in these cases as well. [frontiersin.org]

• Weight Loss

  In addition, obvious feeding difficulty, persistent weight loss, and repeated eczema were not reported in previous cases. [frontiersin.org]

• Eczema

  Facial features of the patient, such as bushy brows, mandibular retrusion, and ear eczema. [frontiersin.org]

• Distractibility

  Behavioral Assessment The patient poorly cooperated and was easily distracted during the behavioral assessment and interactive process, which were not considered seriously by his parents. [frontiersin.org]

• Anxiety Disorder

  In her thirties, a mood/anxiety disorder was suspected for which several antidepressants were given without any effect. Array analysis was normal. [cambridge.org]

• Impulsivity

  After a 2-month medication, ADHD symptoms were not alleviated, and the patient developed irascibility and impulsive behaviors. [frontiersin.org]

The boy’s clinical presentation, workup, management, and possible endocrine mechanisms underlying his genital anomaly are discussed. 2. [hindawi.com]

Aims Formulating a comprehensive treatment approach. Methods Detailed examination of two patients with EHMT1 mutation. [cambridge.org]

Your child’s doctor may recommend treatments for gastrointestinal issues. Gastroesophageal reflux (GERD) occurs when stomach acid flows back into the esophagus. [childrenshospital.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

The project will provide a solid foundation in understanding disease mechanisms and development of new treatments. https://www.research.manchester.ac.uk/portal/siddharth.banka.html https://www.research.manchester.ac.uk/portal/andrew.d.sharrocks.html https [findaphd.com]

Due to its recent discovery and the limited number of cases, the prognosis of the disorder is not completely known. The condition affects men and women equally and does not appear to have a racial or ethnic bias. [cags.org.ae]

Your child may also need physical therapy, speech therapy, and occupational therapy to improve development and long-term prognosis. [childrenshospital.org]

[…] reviewed the clinical manifestations and follow-up data of a case of KLEFS2 from 9 months to 10 years of age and analyzed the pathogenicity of frameshift mutations of the KMT2C gene, aiming to elucidate its therapeutic strategy, clinical outcome, and prognosis [frontiersin.org]

A specific diagnosis has a critical role for management of the disease, prediction of possible problems, prognosis, and prenatal or preimplantation diagnosis, and may participate in the advance of eventual future therapies. [ncbi.nlm.nih.gov]

Micropenis etiology can be classified as primary hypogonadism, insufficient testosterone secretion (hypogonadotropic hypogonadism), testosterone activation defect, developmental, or idiopathic [11]. [hindawi.com]

The etiological factors of ID are very varied and in many children the cause of ID is still unknown [2]. [ncbi.nlm.nih.gov]

GO analysis of the genes identified by our KS signature sites recognized enriched functions and pathways related to KS pathophysiology. [jtggjournal.com]

Cytogenetic and Genome Research Original Article Ciaccio C.a · Scuvera G.a · Tucci A.a · Gentilin B.d · Baccarin M.b · Marchisio P.a · Avignone S.c · Milani D.a aPediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, [karger.com]

[…] through the Division of Clinical and Metabolic Genetics at the Hospital for Sick Children, Toronto, Ontario; Department of Medical Genetics, Alberta Children’s Hospital Research Institute, Calgary, Alberta; Baylor College of Medicine, Houston, Texas; Prevention [jtggjournal.com]

The severity of the disease generally prevents inheritance of KS. A rare case of autosomal dominant inheritance of KS was reported where the parent was found to be mosaic for an EHMT1 mutation (Rump et al. Eu J Hu Genet 21(8):887-890, 2013). [preventiongenetics.com]