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).

Microphthalmia

A developmental anomaly characterized by abnormal smallness of one or both eyes.


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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.
21841432
 MALE
Orthopaedic manifestations in a case of Lenz microphthalmia syndrome.
Derman PB, Kulkarni SS, Dormans JP.
J Pediatr Orthop. 2011;31(6):e64-9.
Lenz microphthalmia syndrome is an X-linked recessive disorder characterized by microphthalmia and dental, urogenital, and skeletal anomalies.
15770227
 MIXED_SAMPLE Infant
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.
Horn D, Chyrek M, Kleier S, Luttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K.
Eur J Hum Genet. 2005;13(5):563-9.
Lenz microphthalmia syndrome is inherited in an X-linked recessive pattern comprising microphthalmia/anophthalmia, mental retardation, malformed ears, digital, skeletal, and urogenital anomalies (synonym: microphthalmia with associated anomalies (MAA)).
15770227
 MIXED_SAMPLE Infant
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.
Horn D, Chyrek M, Kleier S, Luttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K.
Eur J Hum Genet. 2005;13(5):563-9.
Lenz microphthalmia syndrome is inherited in an X-linked recessive pattern comprising microphthalmia/anophthalmia, mental retardation, malformed ears, digital, skeletal, and urogenital anomalies (synonym: microphthalmia with associated anomalies (MAA)).
12116202
 MIXED_SAMPLE Infant
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
Ng D, Hadley DW, Tifft CJ, Biesecker LG.
Am J Med Genet. 2002;110(4):308-14.
Lenz microphthalmia syndrome comprises microphthalmia with mental retardation, malformed ears, skeletal anomalies, and is inherited in an X-linked recessive pattern.
12116202
 MIXED_SAMPLE Infant
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
Ng D, Hadley DW, Tifft CJ, Biesecker LG.
Am J Med Genet. 2002;110(4):308-14.
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
10893665
 MALE Child
Lenz microphthalmia syndrome: three additional cases with rare associated anomalies.
Temtamy SA, Ismail SI, Meguid NA.
Genet Couns. 2000;11(2):147-52.
Lenz microphthalmia syndrome is an extremely rare inherited disorder, characterized by unilateral or bilateral microphthalmia.