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Campomelia, Cumming type

General Information (adopted from Orphanet):

Synonyms, Signs:	CERVICAL LYMPHOCELE WITH BOWED LONG BONES CUMMING SYNDROME
Number of Symptoms	40
OrphanetNr:	1318
OMIM Id:	211890
ICD-10:	Q87.8
UMLs:	C1859371
MeSH:	C537966
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	8 cases [Orphanet]
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:	Neonatal [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Bent bone dysplasia
-Rare bone disease
-Rare developmental defect during embryogenesis
-Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
-Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
-Rare developmental defect during embryogenesis
Syndromic lymphedema
-Rare circulatory system disease
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare skin disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000113)	Polycystic kidney dysplasia	Very frequent [Orphanet]	75 / 7739
2	(HPO:0000107)	Renal cyst	Very frequent [Orphanet]	126 / 7739
3	(HPO:0000174)	Abnormality of the palate	Very frequent [Orphanet]	298 / 7739
4	(HPO:0000476)	Cystic hygroma	Very frequent [Orphanet]	22 / 7739
5	(HPO:0000280)	Coarse facial features	Occasional [Orphanet]	189 / 7739
6	(HPO:0000268)	Dolichocephaly	Very frequent [Orphanet]	144 / 7739
7	(HPO:0008056)	Aplasia/Hypoplasia affecting the eye	Occasional [Orphanet]	142 / 7739
8	(HPO:0000921)	Missing ribs	Very frequent [Orphanet]	62 / 7739
9	(HPO:0004279)	Short palm	Very frequent [Orphanet]	323 / 7739
10	(HPO:0002652)	Skeletal dysplasia	Very frequent [Orphanet]	113 / 7739
11	(HPO:0000765)	Abnormality of the thorax	Frequent [Orphanet]	64 / 7739
12	(HPO:0004599)	Absent or minimally ossified vertebral bodies	Frequent [Orphanet]	18 / 7739
13	(HPO:0006487)	Bowing of the long bones	Very frequent [Orphanet]	95 / 7739
14	(HPO:0100760)	Clubbing of toes	Very frequent [Orphanet]	24 / 7739
15	(HPO:0002983)	Micromelia	Very frequent [Orphanet]	130 / 7739
16	(HPO:0001789)	Hydrops fetalis	Frequent [Orphanet]	63 / 7739
17	(HPO:0001562)	Oligohydramnios	Very frequent [Orphanet]	75 / 7739
18	(HPO:0012090)	Abnormality of pancreas morphology	Very frequent [Orphanet]	31 / 7739
19	(HPO:0006706)	Cystic liver disease	Very frequent [Orphanet]	8 / 7739
20	(HPO:0001748)	Polysplenia		14 / 7739
21	(HPO:0001737)	Pancreatic cysts		15 / 7739
22	(HPO:0006557)	Polycystic liver disease		5 / 7739
23	(HPO:0002250)	Abnormality of the large intestine	Occasional [Orphanet]	32 / 7739
24	(HPO:0002240)	Hepatomegaly	Frequent [Orphanet]	467 / 7739
25	(HPO:0002242)	Abnormality of the intestine	Occasional [Orphanet]	42 / 7739
26	(HPO:0004322)	Short stature		1232 / 7739
27	(HPO:0007495)	Prematurely aged appearance	Very frequent [Orphanet]	44 / 7739
28	(HPO:0200040)	Epidermoid cyst	Frequent [Orphanet]	35 / 7739
29	(HPO:0030680)	Abnormality of cardiovascular system morphology	Occasional [Orphanet]	355 / 7739
30	(HPO:0001004)	Lymphedema	Occasional [Orphanet]	62 / 7739
31	(HPO:0006703)	Aplasia/Hypoplasia of the lungs	Frequent [Orphanet]	79 / 7739
32	(HPO:0011420)	Death	Very frequent [Orphanet]	184 / 7739
33	(OMIM)	Short		4 / 7739
34	(OMIM)	Short gut		1 / 7739
35	(OMIM)	Generalized lymphedema		1 / 7739
36	(HPO:0001522)	Death in infancy	Very frequent [Orphanet]	275 / 7739
37	(OMIM)	Cervical lymphocele (cystic hygroma)		1 / 7739
38	(OMIM)	Bowed		1 / 7739
39	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
40	(OMIM)	Polycystic dysplasia		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

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 ... 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 microphthalmia. 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.

Symptoms & Signs

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