MCID: CMP075
MIFTS: 26

Campomelia, Cumming Type

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Campomelia, Cumming Type

MalaCards integrated aliases for Campomelia, Cumming Type:

Name: Campomelia, Cumming Type 58 60
Cervical Lymphocele with Bowed Long Bones 58 54
Campomelia Cumming Type 54 74
Cumming Syndrome 58 54
Campomelia, Cervical Lymphocele, Polysplenia, and Multicystic Dysplastic Kidneys 54

Characteristics:

Orphanet epidemiological data:

60
campomelia, cumming type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile,stillbirth;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
campomelia, cumming type:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Campomelia, Cumming Type

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1318Disease definitionCampomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.EpidemiologyThe syndrome has been reported in eight infants from four different families.Clinical descriptionSkeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalized hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia (see this term), lung hypoplastia, short bowel. All newborns reported so far were either stillborn or died shortly after birth.Genetic counselingIn one of the affected families, three sibs with identical features born to first-cousin parents have been reported, suggestive of autosomal recessive mode of inheritance.Visit the Orphanet disease page for more resources.

MalaCards based summary : Campomelia, Cumming Type, also known as cervical lymphocele with bowed long bones, is related to visceral heterotaxy and campomelic dysplasia. Affiliated tissues include kidney, bone and liver, and related phenotypes are skeletal dysplasia and bowing of the long bones

Description from OMIM: 211890

Related Diseases for Campomelia, Cumming Type

Diseases related to Campomelia, Cumming Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 visceral heterotaxy 10.1
2 campomelic dysplasia 9.9
3 lymphocele 9.9

Symptoms & Phenotypes for Campomelia, Cumming Type

Human phenotypes related to Campomelia, Cumming Type:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
2 bowing of the long bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0006487
3 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175
4 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
5 dolichocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000268
6 cystic hygroma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000476
7 multicystic kidney dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000003
8 pancreatic cysts 60 33 hallmark (90%) Very frequent (99-80%) HP:0001737
9 multiple renal cysts 60 33 hallmark (90%) Very frequent (99-80%) HP:0005562
10 prematurely aged appearance 60 33 hallmark (90%) Very frequent (99-80%) HP:0007495
11 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
12 abnormality of the ribs 60 33 hallmark (90%) Very frequent (99-80%) HP:0000772
13 clubbing of toes 60 33 hallmark (90%) Very frequent (99-80%) HP:0100760
14 oligohydramnios 60 33 hallmark (90%) Very frequent (99-80%) HP:0001562
15 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
16 myelodysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002863
17 hydrops fetalis 60 33 frequent (33%) Frequent (79-30%) HP:0001789
18 skin dimples 60 33 frequent (33%) Frequent (79-30%) HP:0010781
19 abnormally ossified vertebrae 33 frequent (33%) HP:0100569
20 coarse facial features 60 33 occasional (7.5%) Occasional (29-5%) HP:0000280
21 lymphedema 60 33 occasional (7.5%) Occasional (29-5%) HP:0001004
22 aplasia/hypoplasia affecting the eye 60 33 occasional (7.5%) Occasional (29-5%) HP:0008056
23 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
24 abnormal intestine morphology 33 occasional (7.5%) HP:0002242
25 short stature 33 HP:0004322
26 malformation of the heart and great vessels 60 Occasional (29-5%)
27 death in infancy 60 Very frequent (99-80%)
28 abnormality of the thorax 60 Frequent (79-30%)
29 polycystic kidney dysplasia 33 HP:0000113
30 abnormality of the pancreas 60 Very frequent (99-80%)
31 abnormal vertebral ossification 60 Frequent (79-30%)
32 abnormality of the intestine 60 Occasional (29-5%)
33 polysplenia 33 HP:0001748
34 polycystic liver disease 33 HP:0006557

Symptoms via clinical synopsis from OMIM:

58
Renal:
polycystic kidney dysplasia

Limbs:
bowed
short

Pancreas:
polycystic dysplasia

G I:
short gut

Spleen:
polysplenia

Neck:
cervical lymphocele (cystic hygroma)

Liver:
polycystic dysplasia

Skin:
generalized lymphedema

Clinical features from OMIM:

211890

Drugs & Therapeutics for Campomelia, Cumming Type

Search Clinical Trials , NIH Clinical Center for Campomelia, Cumming Type

Genetic Tests for Campomelia, Cumming Type

Anatomical Context for Campomelia, Cumming Type

MalaCards organs/tissues related to Campomelia, Cumming Type:

42
Kidney, Bone, Liver, Pancreas, Lung, Skin, Eye

Publications for Campomelia, Cumming Type

Articles related to Campomelia, Cumming Type:

# Title Authors Year
1
Differentiating campomelic dysplasia from Cumming syndrome. ( 15754354 )
2005
2
Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes. ( 15523630 )
2005
3
Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome. ( 9415469 )
1997

Variations for Campomelia, Cumming Type

Expression for Campomelia, Cumming Type

Search GEO for disease gene expression data for Campomelia, Cumming Type.

Pathways for Campomelia, Cumming Type

GO Terms for Campomelia, Cumming Type

Sources for Campomelia, Cumming Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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