Cervicofacial lymphatic malformation

General Information (adopted from Orphanet):

Synonyms, Signs: CYSTIC HYGROMA, FETAL
FCH
Number of Symptoms 8
OrphanetNr: 137923
OMIM Id: 257350
ICD-10: D18.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lymphatic malformation
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare oncologic disease
 -Rare skin disease
Rare head and neck malformation
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0010878) Fetal cystic hygroma 3 / 7739
2
(HPO:0001789) Hydrops fetalis 63 / 7739
3
(HPO:0003826) Stillbirth 40 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) High amniotic fluid AFP 2 / 7739
6
(OMIM) Normal karyotype 5 / 7739
7
(OMIM) Fetal hydrops 15 / 7739
8
(OMIM) Nuchal bleb 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Fetal cystic hygromas are congenital malformations of the lymphatic system appearing as single or multiloculated fluid-filled cavities, most often in the neck. They are thought to arise from failure of the lymphatic system to communicate with the venous ...