Microphthalmia, Lenz type

Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


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PMID (PMCID)
30450806
 OTHER
Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.
Kraus C, Uebe S, Thiel CT, Ekici AB, Reis A, Zweier C.
Am J Med Genet A. 2018;176(12):2872-2876.
While the older brother's phenotype completely fits the described phenotypic spectrum of X-linked recessive BCOR-associated Lenz microphthalmia syndrome, the younger brother showed developmental delay, microcephaly, and skeletal anomalies, but not the key feature of microphthalmia.
17951907
(2635974)
 MALE Infant
Lenz microphthalmic syndrome in an Indian patient.
Gupta A, Srinivasan R, Pandian DG, Babu KR.
Indian J Ophthalmol. 2007;55(6):462-3.
A case of Lenz microphthalmia syndrome in a seven-month-old male child having features of unilateral anophthalmia, microcephaly, external ear and finger abnormalities, hydrocele and hypospadias is being reported.
15216542
 MALE Infant
Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome.
Derbent M, Agras PI, Gedik S, Oto S, Alehan F, Saatci U.
Am J Med Genet A. 2004;128A(3):232-4.
The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.
15216542
 MALE Infant
Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome.
Derbent M, Agras PI, Gedik S, Oto S, Alehan F, Saatci U.
Am J Med Genet A. 2004;128A(3):232-4.
The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.
11426460
 MALE Infant
Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.
Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V.
Am J Med Genet. 2001;98(1):92-100.
Lenz microphthalmia syndrome is a rare X-linked recessive condition first described by Lenz in 1955 and comprises of anophthalmia, microcephaly, mental retardation, external ear, digital, cardiac, skeletal, and urogenital anomalies.