Feingold Syndrome

Feingold Syndrome is characterized by a combination of congenital anomalies, most notably microcephaly, distal limb malformations, and esophageal/duodenal atresia. Approximately 85% of affected individuals have microcephaly, often associated with learning disabilities or mild mental retardation. Short middle phalanges of the 2nd and 5th fingers are the most common feature. Other limb malformations may include clinodactyly of the 2nd and 5th fingers, hypoplastic thumbs, restricted finger and elbow movement, and syndactyly of the 2nd/3rd and 4th/5th toes. Gastrointestinal atresia is found in almost 40% of affected individuals. Although esophageal atresia with or without tracheo-esophageal fistula is seen in only 25-30% of patients, Feingold syndrome may emerge as one of the more common forms of syndromic esophageal atresia. Less frequently reported clinical features include short palpebral fissures, broad nasal bridge, anteverted nostrils, micrognathia, ear abnormalities, cardiovascular anomalies (most commonly patent ductus arteriosus), renal and vertebral anomalies, deafness, and short stature. These features exhibit significant inter- and intra-familial variability. The constellation of anomalies observed in Feingold syndrome shows considerable overlap with the VATER/VACTERL association, most significantly esophageal/ duodenal atresia

Tests Available

Forms and Documents

Test Details

MYCN
  • Confirmation of a clinical diagnosis
  • To differentiate Feingold syndrome from VATER/VACTERL and other disorders with esophageal atresia
  • Risk assessment
  • Prenatal diagnosis in families with an affected child who has a known mutation
  • Capillary Sequencing

Ordering

260
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Celli, J. et al., (2003)Feingold syndrome: clinical review and genetic mapping Am J Med Genet. 122A: 294-300
  2. Van Bokhoven, H. et al. (2005) MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.Nat Genet. 37: 465-467
  3. Van Bokhoven, H. (2006) Personal communication
  4. Celli, J. et al. (2000) Familial syndromic esophageal atresia maps to 2p23-p24.Am J Hum Genet 66:436-444
  5. Marcelis C. et al., (2008) Genotype-Phenotype Correlations in MYCN-Related Feingold Syndrome. Hum Mut 29(9):1125-1132

Forms and Documents

Test Details

MYCN
  • MYCN deletion/duplication testing if sequencing is negative
  • Confirmation of a clinical diagnosis
  • To differentiate Feingold syndrome from VATER/VACTERL and other disorders with esophageal atresia
  • Risk assessment
  • Prenatal diagnosis in families with an affected child who has a known mutation
  • MLPA

Ordering

906
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Celli, J. et al., (2003)Feingold syndrome: clinical review and genetic mapping Am J Med Genet. 122A: 294-300
  2. Van Bokhoven, H. et al. (2005) MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.Nat Genet. 37: 465-467
  3. Van Bokhoven, H. (2006) Personal communication
  4. Celli, J. et al. (2000) Familial syndromic esophageal atresia maps to 2p23-p24.Am J Hum Genet 66:436-444
  5. Marcelis C. et al., (2008) Genotype-Phenotype Correlations in MYCN-Related Feingold Syndrome. Hum Mut 29(9):1125-1132