Cumming syndrome

Autosomal recessive inheritance.

Synopsis

 cervical lymphocele (cystic hygroma)
 renal-hepatic-pancreatic dysplasia
 short gut
 polysplenia
 generalized lymphedema
 short limbs
 bowed limbs (campomelia)

References

 Cumming, W. A.; Ohlsson, A.; Ali, A. : Campomelia, cervical lymphocele, polycystic dysplasia, short gut, polysplenia. Am. J. Med. Genet. 25: 783-790, 1986. PubMed ID : 3538874

 Ming, J. E.; McDonald-McGinn, D. M.; Markowitz, R. I.; Ruchelli, E.; Zackai, E. H. : Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome. Am. J. Med. Genet. 73: 419-424, 1997. PubMed ID : 9415469

 Perez del Rio, M. J.; Fernandez-Toral, J.; Madrigal, B.; Gonzalez-Gonzalez, M.; Ablanedo, P.; Herrero, A. :Two new cases of Cumming syndrome confirming autosomal recessive inheritance. Am. J. Med. Genet. 82: 340-343, 1999. PubMed ID : 10051169

 Urioste, M.; Arroyo, A.; Martinez-Frias, M.-L. : Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs. Am. J. Med. Genet. 41: 475-477, 1991. PubMed ID : 1776641

 Watiker, V.; Lachman, R. S.; Wilcox, W. R.; Barroso, I.; Schafer, A. J.; Scherer, G. :
Differentiating campomelic dysplasia from Cumming syndrome. (Letter) Am. J. Med. Genet. 135A: 110-112, 2005.