"Hennekam syndrome"

Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation. Intestinal lymphangiectasia (IL) is a rare disease characterized by dilatation and rupture of intestinal lymphatic channels leading to protein-losing enteropathy. IL is classified as primary and secondary types. A 3-month-old girl born at term from vaginal delivery with an APGAR score

Hennekam Syndrome: A Case Report Hennekam syndrome is a rare autosomal recessive disorder resulting from malformation of the lymphatic system. The characteristic signs of Hennekam syndrome are lymphangiectasia, lymph edema, facial anomalies, and mental retardation. This is a case in which a patient presented with left-arm lymphedema, facial-feature anomalies, and multiple organ lymphangiectasia consistent with symptoms of Hennekam syndrome. There is no curative therapy at this time, but rehabilitative treatments including complete decongestive therapy for edema control appeared to be beneficial.

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. Mutations in CCBE1 have been found to be responsible for a subset of families with autosomal recessive Hennekam syndrome. Hennekam syndrome is defined as the combination of generalized lymphatic dysplasia (ie. lymphedema and lymphangiectasia), variable intellectual disability of classic Hennekam syndrome.

A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression Collagen and calcium-binding EGF domain-containing protein 1 (CCBE1) bi-allelic mutations have been associated with syndromes of widespread congenital lymphatic dysplasia, including Hennekam Syndrome (HS). HS is characterized by lymphedema, lymphangiectasia

, and various degrees of intellectual disability. The clinical presentation of RSTS is notably variable, making it challenging to establish a clear genotype-phenotype correlation, except for specific variants which cause the allelic Menke-Hennekam syndrome. Trio exome analysis, data collection via networking and GeneMatcher platforms, transcript processing analysis, and DNA methylation profiling were

Atypical cadherin FAT4 orchestrates lymphatic endothelial cell polarity in response to flow. The atypical cadherin FAT4 has established roles in the regulation of planar cell polarity and Hippo pathway signaling that are cell context dependent. The recent identification of FAT4 mutations in Hennekam syndrome, features of which include lymphedema, lymphangiectasia, and mental retardation , uncovered an important role for FAT4 in the lymphatic vasculature. Hennekam syndrome is also caused by mutations in collagen and calcium binding EGF domains 1 (CCBE1) and ADAM metallopeptidase with thrombospondin type 1 motif 3 (ADAMTS3), encoding a matrix protein and protease, respectively, that regulate activity of the key prolymphangiogenic VEGF-C/VEGFR3 signaling axis by facilitating the proteolytic

and human patients have improved our understanding of lymphatics, and the interplay between zebrafish genetics, studies in mice and GWAS analysis in human patients have identified genes that, when mutated, will lead to lymphedema formation. Here, we focus on components of the Vegfr3 pathway, and how they are connected to Milroy disease and Hennekam syndrome.

junctions of valve endothelial cells in vivo and in vitro. Our data demonstrate that Fat4 and Dachsous1 are critical regulators of valve morphogenesis. This study highlights that valve defects may contribute to lymphedema in Hennekam syndrome caused by Fat4 mutations.

Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain. Collagen- and calcium-binding EGF domain-containing protein 1 (CCBE1) is essential for lymphangiogenesis in vertebrates and has been associated with Hennekam syndrome. Recently, CCBE1 has emerged as a crucial regulator of vascular endothelial growth factor-C (VEGFC) signaling. CCBE1 is a secreted , could partially substitute for Ccbe1 to enhance Vegfc signaling in zebrafish. Third, CCBE1ΔEGF, similarly to CCBE1, but not CCBE1ΔCollagen could activate VEGFC processing in vitro. Furthermore, a Hennekam syndrome mutation within the collagen domain has a stronger effect than a Hennekam syndrome mutation within the EGF domain. We propose that the collagen domains of CCBE1 are crucial

lymphangiectasia. Eur J Pediatr Surg. 2009 Aug. 19(4):241-5. [QxMD MEDLINE Link]. 14. Al Sinani S, Rawahi YA, Abdoon H. Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia. World J Gastroenterol. 2012 Nov 21. 18(43):6333-7. [QxMD MEDLINE Link]. [Full Text]. 15. Troskot R, Jurcic D, Bilic A, Gomercic Palcic M, Tezak S, Brajkovic I. How to treat an extensive form of primary

enteroscopy. World J Gastrointest Endosc. 2011 Nov 16. 3(11):235-40. [QxMD MEDLINE Link]. [Full Text]. 13. Desai AP, Guvenc BH, Carachi R. Evidence for medium chain triglycerides in the treatment of primary intestinal lymphangiectasia. Eur J Pediatr Surg. 2009 Aug. 19(4):241-5. [QxMD MEDLINE Link]. 14. Al Sinani S, Rawahi YA, Abdoon H. Octreotide in Hennekam syndrome-associated

enteroscopy. World J Gastrointest Endosc. 2011 Nov 16. 3(11):235-40. [QxMD MEDLINE Link]. [Full Text]. 13. Desai AP, Guvenc BH, Carachi R. Evidence for medium chain triglycerides in the treatment of primary intestinal lymphangiectasia. Eur J Pediatr Surg. 2009 Aug. 19(4):241-5. [QxMD MEDLINE Link]. 14. Al Sinani S, Rawahi YA, Abdoon H. Octreotide in Hennekam syndrome-associated

lymphangiectasia. Eur J Pediatr Surg. 2009 Aug. 19(4):241-5. [QxMD MEDLINE Link]. 14. Al Sinani S, Rawahi YA, Abdoon H. Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia. World J Gastroenterol. 2012 Nov 21. 18(43):6333-7. [QxMD MEDLINE Link]. [Full Text]. 15. Troskot R, Jurcic D, Bilic A, Gomercic Palcic M, Tezak S, Brajkovic I. How to treat an extensive form of primary

. Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations. Eur J Hum Genet. 2016 Feb 17. [QxMD MEDLINE Link]. 38. McMillan T. Neonatal diabetes and protein losing enteropathy: a case report. BMC Medical genetics. 39. Jackson CC, Best L, Lorenzo L, Casanova JL, Wacker J, Bertz S, et al. A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression. J Clin Immunol. 2016 Jan. 36 (1):19-27. [QxMD MEDLINE Link]. 40. Frosk P, Chodirker B, Simard L, El-Matary W, Hanlon-Dearman A, Schwartzentruber J, et al. A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. BMC Med Genet. 2015 Apr 30. 16:28. [QxMD MEDLINE Link

]. 38. McMillan T. Neonatal diabetes and protein losing enteropathy: a case report. BMC Medical genetics. 39. Jackson CC, Best L, Lorenzo L, Casanova JL, Wacker J, Bertz S, et al. A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression. J Clin Immunol. 2016 Jan. 36 (1):19-27. [QxMD MEDLINE Link]. 40. Frosk P , Chodirker B, Simard L, El-Matary W, Hanlon-Dearman A, Schwartzentruber J, et al. A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. BMC Med Genet. 2015 Apr 30. 16:28. [QxMD MEDLINE Link]. 41. Berges-Raso I, Capel I, Caixàs A, Trallero R, Rigla M. Hypothyroidism and protein-losing enteropathy: A case report. Endocrinol Nutr. 2016 Feb. 63

. Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations. Eur J Hum Genet. 2016 Feb 17. [QxMD MEDLINE Link]. 38. McMillan T. Neonatal diabetes and protein losing enteropathy: a case report. BMC Medical genetics. 39. Jackson CC, Best L, Lorenzo L, Casanova JL, Wacker J, Bertz S, et al. A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression. J Clin Immunol. 2016 Jan. 36 (1):19-27. [QxMD MEDLINE Link]. 40. Frosk P, Chodirker B, Simard L, El-Matary W, Hanlon-Dearman A, Schwartzentruber J, et al. A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. BMC Med Genet. 2015 Apr 30. 16:28. [QxMD MEDLINE Link

The secreted lymphangiogenic factor CCBE1 is essential for fetal liver erythropoiesis. The secreted protein CCBE1 is required for lymphatic vessel growth in fish and mice, and mutations in the CCBE1 gene cause Hennekam syndrome, a primary human lymphedema. Here we show that loss of CCBE1 also confers severe anemia in midgestation mouse embryos due to defective definitive erythropoiesis. Fetal

. Treatment... read more * Yellow nail syndrome Nail deformities and dystrophies associated with systemic problems Deformities are often considered together with dystrophies, but the two are slightly different; deformities are generally considered to be gross changes in nail shape, whereas dystrophies are... read more , characterized by pleural effusions and yellow nails * Hennekam syndrome

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. The Hennekam syndrome is an infrequently reported heritable entity characterized by lymphedema, lymphangiectasia, and developmental delay. Here we add an additional 8 patients, and compare their findings to the 16 cases from the literature. The lymphedema is usually congenital, can be markedly asymmetrical, and, often

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics define the autosomal recessive Hennekam syndrome. Homozygosity mapping identified a critical chromosomal region containing CCBE1, the human ortholog of a gene essential for lymphangiogenesis in zebrafish. Homozygous and compound heterozygous