Lymphedema Campomelia Cumming

Lymphedema Campomelia Cumming

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Discussion

Very rare type of lymphedema that can present with as many as 37 specific sypmtoms.

Genetics: Autosomal recessive inheritance;

Synonym: Campomelia, Cumming type, Cervical lymphocele with bowed long bones, Cumming syndrome, Campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys

Symptoms and complications:

Frequent symptoms include Dolicho/Scaphocephaly, Cleft palate, Cystic hygroma, abnormal rib number, lack/delayed ossification of spine, short limbs/micromelia, bowed diaphysis Brachydactyly, talipes-varus/valgus, short foot/brachydactyly of toes, intestinal atresia, (excludes duodenum), polycystic kidneys, undescended/ectopic testes, cysts of the liver, pancreas anomalies.

Treatment:

Treatment will focus on the symptoms and/or complications. A management/treatment program will need to be established for the lymphedema. Intervention may be neceesary, based on severity for many of the other symptoms which would include undescended testicles, liver cyts, polycystic kidney and cystic hygroma.

Pat O'Connor

May 29, 2008

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Clinical Information and Articles

OMIM# %211890

CAMPOMELIA, CUMMING TYPE

Alternative titles; symbols

CERVICAL LYMPHOCELE WITH BOWED LONG BONES
CUMMING SYNDROME

TEXT

Cumming et al. (1986) described a stillborn male infant, born at 27 weeks' gestation of an Egyptian couple related as first cousins once removed, who had bowed limbs, marked cervical lymphocele (a term the authors preferred to cystic hygroma), polycystic dysplasia of the kidneys, pancreas, and liver, short gut, and polysplenia. Two apparently identically affected stillborn infants, a male and a female, had been born previously at 28 weeks' gestation. Urioste et al. (1991) described 2 female sibs, the offspring of healthy nonconsanguineous parents, who died shortly after birth. They showed generalized lymphedema, cervical lymphocele, shortness of limbs, bowed long bones, and multicystic kidneys with fibrotic liver or pancreas.

Ming et al. (1997) described a fetus with tetramelic campomelia, polysplenia, multicystic dysplastic kidneys, and cervical lymphocele. In addition, there were anomalies not previously described in this condition, including abnormal lung lobation with bilateral left bronchial morphology, dextrocardia, total anomalous pulmonary venous return, left superior vena cava, and right aortic arch. The pancreas was short, with absence of the body and tail. Ming et al. (1997) suggested that the syndrome reported by Cumming et al. (1986) could be expanded to include polysplenia with heterotaxia and that Cumming syndrome may be considered another autosomal recessive condition associated with a laterality defect.

Perez del Rio et al. (1999) reported the cases of 2 sisters born to young parents of unknown consanguinity. The clinical and autopsy findings were considered to be consistent with the diagnosis of Cumming syndrome. The first fetus was stillborn at 36 weeks and showed hydrops, cloverleaf skull, and a severely deformed face, with a considerable amount of redundant subcutaneous tissue, massive cervical edema, and microphthalmos. The facial appearance was said to be similar to that of a 40-day embryo. The chest was narrow and the abdomen swollen with mild ascites. All 4 limbs were short and bowed. Autopsy revealed lung hypoplasia, enlarged cystic kidneys, and hepatomegaly. The second fetus, delivered by cesarean section at 31 weeks, died within minutes after delivery. The external appearance was similar to that of her sister, with cloverleaf skull and redundant soft tissue in the occipital and facial regions. Again, lung hypoplasia and enlarged cystic kidneys were found. The liver likewise showed polycystic dysplasia.

Watiker et al. (2005) reported 2 patients originally diagnosed as having Cumming syndrome who were subsequently found to have mutations in the SOX9 gene, prompting reassessment of the cases and reclassification as campomelic dysplasia (114290). Features consistent with Cumming syndrome included campomelia of prenatal onset, cystic hygroma, and a small chest; 1 patient also had a cleft palate and multicystic kidneys, and the other had a complex congenital heart defect. The patients also had short, irregular chondrocyte columns, whereas chondroosseous morphology appears normal in campomelic dysplasia except at the diaphyseal bend. Watiker et al. (2005) concluded that the presence of a narrow, tall pelvis, hypoplastic scapulae, and sex reversal are key findings in campomelic dysplasia that allow it to be differentiated from Cumming syndrome.

REFERENCES

1. 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
2. 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
3. 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
4. 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

CONTRIBUTORS

Victor A. McKusick - updated : 2/16/1999
Victor A. McKusick - updated : 1/13/1998

CREATION DATE

Marla J. F. O'Neill - updated : 5/23/2005

Victor A. McKusick : 12/16/1986

EDIT HISTORY

carol : 5/15/2007
mgross : 3/17/2004
carol : 2/16/1999
terry : 2/16/1999
mark : 1/16/1998
terry : 1/13/1998
mimadm : 2/19/1994
supermim : 3/16/1992
carol : 1/9/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988

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Lymphedema Campomelia Cumming

The association of rare limb and multivisceral anomalies was reported in 8 infants of 4 different families; in one of them, three sibs with identical features were born to first-cousins parents, which is in favor of an autosomal recessive mode of inheritance. All four limbs have bowed and short long bones. Infants are either stilborn or die shortly after birth, that mostly occurs prematurely. Lymphatic anomalies may be generalized lymphedema or cervical lymphocele, a term preferred to cystic hygroma colli. Visceral anomalies include multicystic dysplasia of the kidneys, pancreas, and liver, short gut, and polysplenia. In two sisters, additional findings included cloverleaf skull, a severely deformed face with a considerable amount of redundant subcutaneous tissue, and microphthalmos. In another case, abnormal lung lobation was reported, with bilateral left bronchial morphology (heterotaxia), dextrocardia, total anomalous pulmonary venous return, left superior vena cava, and right aortic arch. It was suggested then that the phenotype of Cumming syndrome could be expanded to include a laterality defect. *Author : Dr E. Robert-Gnansia (May 2004)*.

Clinical Signs

  abnormal rib number (Very frequent sign)
   autosomal recessive inheritance (Very frequent sign)
   bowed diaphysis (Very frequent sign)
   brachydactyly (Very frequent sign)
   cleft palate (Very frequent sign)
   cystic hygroma (Very frequent sign)
   cysts of the liver (Very frequent sign)
   dolicho/scaphocephaly (Very frequent sign)
   hypoplastic lungs (Very frequent sign)
   intestinal atresia (excludes duodenum) (Very frequent sign)
   lack/delayed ossification of spine (Very frequent sign)
   oligoamnios (Very frequent sign)
   pancreas anomalies (Very frequent sign)
   polycystic kidneys (Very frequent sign)
   short foot/brachydactyly of toes (Very frequent sign)
   short limbs/micromelia (Very frequent sign)
   stillbirth/neonatal death (Very frequent sign)
   talipes-varus/valgus (Very frequent sign)
   undescended/ectopic testes (Very frequent sign)
   polysplenia (Frequent sign)
   sinus/dimple/pit(other than sacral) (Frequent sign)
   abnormal gastrointestinal tract (Occasional sign)
   anomalous pulmonary venous return (Occasional sign)
   cloverleaf skull (Occasional sign)
   coarse face (Occasional sign)
   congenital cardiac anomaly (Occasional sign)
   dextrocardia (Occasional sign)
   microphthalmos (Occasional sign)

Outpatient clinic(s)

Dysmorphology clinic
Genetic counselling clinic

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1318

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Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs.

Urioste M, Arroyo A, Martinez-Frias ML.

Hospital Universitario San Carlos y ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.

We report on 2 sibs with a similar MCA pattern consisting of generalized lymphedema, cervical lymphocele, shortness of limbs, bowed long bones, and multicystic kidneys with fibrotic liver or pancreas. To our knowledge, this is the second observation of such a combination of defects in sibs, and it confirms the existence of the syndrome reported by Cumming et al. [1986] and its autosomal recessive inheritance.

PMID: 1776641 [PubMed - indexed for MEDLINE]

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Cumming Syndrome: report of two additional cases

1998

Kurt M. Dibbern¹, John M. Graham¹, Ralph S. Lachman¹ and William R. Wilcox¹

(1)	Department of Medical Genetics and Pediatrics, Cedars-Sinai Medical Center, University of California, Los Angeles, Los Angeles, California, USA, US

(2)	Department of Radiology, Harbor-UCLA Medical Center, Torrance, California, USA, US

(3)	International Skeletal Dysplasia Registry, 444 South San Vicente Blvd., Suite 1001, Los Angeles, CA 90048, USA, US

Abstract We present two unrelated cases with a similar pattern of multiple congenital anomalies including limb shortening, long bone angulation, and cervical lymphocele. We believe these cases to represent additional examples of a syndrome first described by Cumming et al. (1986), and by Urioste et al. (1991) and Ming et al. (1997).

Springer Link

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Codes and External Resources:

Orpha number	ORPHA1318
Prevalence	Exceptional
Inheritance	Autosomal recessive
Age of onset	Neonatal/infancy
ICD 10 code	Q87.8
MIM number	211890

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