Primary Congenital Lymphedema (Milroy"s)
Véronique Mirlesse MD et al., theFetus.net, October 23, 2002
Synonyms: Hereditary lymphedema type I, Nonne-Milroy Lymphedema, early-onset lymphedema, primary congenital lymphedema. ... Incidence: 1:33,000 newborn. Male to female ratio 1:2,3 ... Autosomal dominant with incomplete penetrance ... gene mutation ... 5q35.3'2 ... due to dysgenesis of lymphatic microvessels ... Lymphedema ... persists throughout life but does not appear to affect longevity ... can rarely present with genital edema, resembling sexual ambiguity ... suggested by the finding of an isolated edema of the dorsum of feet in the fetus, a normal karyotype and absence of other significant malformations ... Differential diagnosis:

• Non-lymphatic edema.
• Turner syndrome
• Noonan syndrome
• Lymphedema-distichiasis syndrome (double row of eyelashes)
• Lymphedema and ptosis syndrome.
• Meige lymphedema (Hereditary lymphedema type II, late-onset congenital lymphedema, lymphedema praecox)
• Congenital recessive type lymphedema

• Intestinal lymphangiectasia
• Angiosarcoma
• Lymphangiosarcoma

LYMPHEDEMA, HEREDITARY, IA
Victor A. McKusick, OMIM, Johns Hopkins University, July 1, 2009
[for Professionals mainly]
Alternative titles; symbols
NONNE-MILROY LYMPHEDEMA
MILROY DISEASE
LYMPHEDEMA, EARLY-ONSET
PRIMARY CONGENITAL LYMPHEDEMA; PCL
Gene map locus 5q35.3
Milroy (1892) ... observed congenital chylous ascites in an affected infant ... swelling of the scrotum beginning at the age of 20 years ... bilateral pleural effusion in which ... autosomal dominant ... proband had severe elephantiasis ...

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Last Updated: 2009/8/21

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