Microphthalmia, Lenz type

A very 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.

Also known as: Lenz Microphthalmia Syndrome, Lenz microphthalmia, Lenz microphthamia syndrome, Lenz dysplasia, MAA (formerly), MCOPS1, microphthalmia Lenz type, microphthalmia or anophthalmos with associated anomalies (formerly)

0 clinical trials for this condition and its sub-types, 0 tagged with Microphthalmia, Lenz type itself.