Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Microcephaly-lymphedema-chorioretinopathy syndrome

Microcephaly-lymphedema-chorioretinopathy syndrome is an autosomal dominant disorder caused by mutations of the KIF11 gene.

Systematic

Hereditary lymphedema
Emberger syndrome
Hennekam syndrome
Hereditary lymphedema type 1a
Hereditary lymphedema type 1c
Hereditary lymphedema type 1d
Hereditary lymphedema with distichiasis
Microcephaly-lymphedema-chorioretinopathy syndrome
KIF11

References:

1.

Vasudevan PC et. al. (2005) Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature.

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2.

Ostergaard P et. al. (2012) Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

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3.

Mirzaa GM et. al. (2014) Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.

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4.

Robitaille JM et. al. (2014) Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.

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5.

Feingold M et. al. (1992) Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?

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6.

Manning FJ et. al. (1990) Electroretinograms in microcephaly with chorioretinal degeneration.

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7.

Young ID et. al. (1987) Microcephaly, microphthalmos, and retinal folds: report of a family.

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8.

None (1986) On congenital lymphedema.

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9.

Crowe CA et. al. (1986) A genetic association between microcephaly and lymphedema.

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10.

None (1987) Dominantly inherited syndrome of microcephaly and congenital lymphedema with normal intelligence.

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11.

None (1985) Dominantly inherited syndrome of microcephaly and congenital lymphedema.

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12.

McKusick VA et. al. (1966) Chorioretinopathy with hereditary microcephaly.

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13.

Alzial C et. al. (1980) ["True" microcephaly with dominant-inheritance chorioretinal dysplasia].

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14.

Jarmas AL et. al. (1981) Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome.

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15.

Tenconi R et. al. (1981) Chorio-retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome.

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16.

Angle B et. al. (1994) Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases.

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17.

Warburg M et. al. (1994) Chorioretinal dysplasia-microcephaly-mental retardation syndrome.

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18.

Sadler LS et. al. (1993) Chorioretinal dysplasia-microcephaly-mental retardation syndrome: report of an American family.

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19.

Fryns JP et. al. (1995) On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association.

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20.

Hordijk R et. al. (1996) Chorioretinal dysplasia-microcephaly-mental retardation syndrome: another family with autosomal dominant inheritance.

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21.

Kozma C et. al. (1996) The microcephaly-lymphoedema syndrome: report of an additional family.

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22.

Strenge S et. al. (1998) Microcephaly-lymphedema syndrome: report of a family with short stature as additional manifestation.

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23.

Limwongse C et. al. (1999) Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.

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24.

Abdel-Salam GM et. al. (2000) Microcephaly with chorioretinal dysplasia: characteristic facial features.

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Update: Sept. 26, 2018