Campomelia, Cumming type

MedGen UID:: 347864
•Concept ID:: C1859371
•: Disease or Syndrome

Synonyms:	Campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys; Cervical lymphocele with bowed long bones; Cumming syndrome
SNOMED CT:	Campomelia Cumming type (720599002); Cumming syndrome (720599002)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0008896
OMIM®:	211890
Orphanet:	ORPHA1318

Definition

The association of limb defects and multivisceral anomalies. The syndrome has been reported in eight infants from four different families. Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalised hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia, hypoplastic lung, short bowel. All newborns reported so far were either stillborn or died shortly after birth. [from SNOMEDCT_US]

Clinical features

From HPO

Polycystic kidney disease

MedGen UID:: 9639
•Concept ID:: C0022680
•: Disease or Syndrome

The presence of multiple cysts in both kidneys.

See: Feature record | Search on this feature

Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

See: Feature record | Search on this feature

Pancreatic cysts

MedGen UID:: 45293
•Concept ID:: C0030283
•: Disease or Syndrome

A cyst of the pancreas that possess a lining of mucous epithelium.

See: Feature record | Search on this feature

Autosomal dominant polycystic liver disease

MedGen UID:: 56388
•Concept ID:: C0158683
•: Disease or Syndrome

Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).

See: Feature record | Search on this feature

Bowing of the long bones

MedGen UID:: 340849
•Concept ID:: C1855340
•: Congenital Abnormality

A bending or abnormal curvature of a long bone.

See: Feature record | Search on this feature

Polysplenia

MedGen UID:: 383959
•Concept ID:: C1856659
•: Congenital Abnormality

Polysplenia is a congenital disease manifested by multiple small accessory spleens.

See: Feature record | Search on this feature

Lymphedema

MedGen UID:: 6155
•Concept ID:: C0024236
•: Disease or Syndrome

Localized fluid retention and tissue swelling caused by a compromised lymphatic system.

See: Feature record | Search on this feature

Cystic hygroma

MedGen UID:: 60195
•Concept ID:: C0206620
•: Neoplastic Process

A cystic lymphatic lesion of the neck.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of head or neck
- Cystic hygroma
Abnormality of metabolism/homeostasis
- Lymphedema
Abnormality of the digestive system
- Autosomal dominant polycystic liver disease
- Pancreatic cysts
Abnormality of the genitourinary system
- Polycystic kidney disease
Abnormality of the immune system
- Polysplenia
Abnormality of the musculoskeletal system
- Bowing of the long bones
Growth abnormality
- Short stature

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCampomelia, Cumming type

Bent bone dysplasia
- Campomelia, Cumming type

Follow this link to review classifications for Campomelia, Cumming type in Orphanet.

Recent clinical studies

Etiology

Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration.

Tonni G, Palmisano M, Lituania M, Grisolia G, Baffico AM, Bonasoni MP, Pattacini P, De Felice C, Araujo Júnior E
Taiwan J Obstet Gynecol 2016 Dec;55(6):771-776. doi: 10.1016/j.tjog.2015.10.027. PMID: 28040117

See all (1)