Search for a rare disease
Other search option(s)
EPHB4-related lymphatic-related hydrops fetalis
Disease definition
A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.
ORPHA:568065
Classification level: Disorder- Synonym(s):
- EPHB4-related LRHF/GLD
- EPHB4-related generalized lymphatic dysplasia with atrial septal defect
- EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Antenatal
- ICD-10: -
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.