Preferred Label : Lymphedema, congenital recessive;
Obsolete resource : true;
Moved to : 153100; 616843;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : The possibility of an autosomal recessive form of congenital lymphedema was raised
by Kajii and Tsukahara (1985), who described brother and sister. The parents were
not known to be related but came from an island with a population of 1,500 in the
Sea of Japan. Kajii and Tsukahara (1986) cited a similar experience of brother and
sister with congenital lymphedema of the lower extremities and no associated malformations.
Mucke et al. (1986) observed 2 brothers with chronic congenital lymphedema and proposed
the existence of an X-linked or recessive form. In addition to edema of the limbs,
they had abnormalities of the external genitalia as a deformation sequence resulting
from intrauterine edema and had intestinal lymphedema. A prominent feature also was
chemosis and injection of the conjunctiva. *FIELD* RF 1. Kajii, T.; Tsukahara, M.:
Congenital lymphedema in two siblings. Jpn. J. Hum. Genet. 30: 31-34, 1985. 2. Kajii,
T.; Tsukahara, M.: Autosomal recessive lymphedema? (Letter) Jpn. J. Hum. Genet. 31:
57 only, 1986. 3. Mucke, J.; Hoepffner, W.; Scheerschmidt, G.; Gornig, H.; Beyreiss,
K.: Early onset lymphoedema, recessive form--a new form of genetic lymphoedema syndrome.
Europ. J. Pediat. 145: 195-198, 1986. *FIELD* CS Skin: Congenital lymphedema GU: External
genitalia deformity GI: Intestinal lymphedema;
Inheritance : Autosomal recessive;
Prefixed ID : 247440;
Origin ID : 247440;
UMLS CUI : C1855475;
Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
