Microphthalmia, Lenz type

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Microphthalmia, Lenz type

Synonyms: Lenz microphthalmia

A rare X-linked inherited form of syndromic microphthalmia 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) 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.

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