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Microphthalmia with congenital cataracts are the outstanding ocular features of this syndrome. Some patients have glaucoma. Blepharophimosis, ptosis, and ankyloblepharon have also been reported.
Facial dysmorphism, dental anomalies and cardiac defects are consistently present. The face may appear elongated while the nose can be short with a broad tip and long philtrum. The primary teeth often persist into the second decade but oligodontia, hyperdontia, and dental radiculomegaly may be seen as well. Reported cardiac defects include ASD, VSD and floppy valves. Some patients have cleft palate. Renal, and intestinal malformations have also been described and some patients exhibit psychomotor delays.
This is an X-linked disorder secondary to a mutation in the BCOR gene at Xp11.4. Because virtually all patients are female, it has been suggested that this is an X-linked dominant mutation with lethality in hemizygous males (mother-daughter transmission has been reported). This is one of several disorders [others being Incontinentia pigmenti (308300)and focal dermal hypoplasia (305600)]in which skewed X chromosome inactivation has been demonstrated.
Cataracts can be removed and glaucoma requires treatment.
Microphthalmia is often a part of other ocular and systemic anomalies. The full range of essential features of Lenz microphthalmia remains unknown but is often diagnosed in males when colobomas and microcornea are associated with mental deficits together with urogenital and skeletal anomalies. Microphthalmos may be unilateral and ocular cysts are common. The globes may be sufficiently small that anophthalmia is sometimes diagnosed but this is a misnomer as some ocular tissue is always present. Sixty per cent of eyes have colobomas which are often bilateral and may involve the optic disc, choroid, ciliary body, and iris. Blindness is common.
A large number of associated systemic anomalies have been reported with this type of microphthalmia. Skeletal features include microcephaly, spinal deformities, high arched palate, pectus excavatum, absent or dysplastic clavicles (accounting for the narrow or sagging shoulders), and digital anomalies including syndactyly, duplicated thumbs and clinodactyly. Physical growth retardation is evident by shortness of stature. Urogenital malformations are present in 77% of individuals and include hypospadius, cryptorchidism, hydroureter, and renal dysgenesis. Dental anomalies include oligodontia and irregular lower incisors that may be widely spaced. Some degree of intellectual disability is present in 63%. The ears may be abnormally shaped, low-set, rotated posteriorly, and anteverted.
This is a rare X-linked disorder that is apparently due to an unknown mutation at Xq27-Xq28. No male-to-male transmission has been observed but affected males rarely reproduce as a result of various urogenital anomalies.
A somewhat similar X-linked syndrome of microphthalmia, sometimes called OFCD syndrome (syndromic 2 microphthalmia; 300166) has been reported to be caused by mutations in BCOR (Xp11.4). This MCOPS2 disorder is often considered to be X-linked dominant with lethality in males.
Another X-linked non-syndromic form of microphthalmia with colobomas has been reported (Microphthalmia with Coloboma, X-Linked; 300345). In addition there is a similar disorder of simple Microphthalmia with Coloboma that is inherited either in an autosomal dominant or autosomal recessive pattern (605738, 610092, 611638, 613703, 251505 ).
There is no treatment beyond supportive care for specific health issues.
Orbital hypoplasia, short, downward slanting lid fissures, and sometimes lid notching (colobomas?) are characteristic facial features as are bushy eyebrows and synophrys. Lacrimal duct stenosis has been noted. The eyes are described as ‘small’ but no ophthalmological examination has been performed to document microphthalmia or other ocular anomalies. No mention is made of visual problems.
Premature closure of the coronal suture and midface hypoplasia lead to striking brachycephaly. The scalp hairline is low and scalp hair is abundant and coarse. In fact, hypertrichosis is seen throughout the body. Hypo- and microdontia with irregularly spaced teeth and a high arched palate are common features. The labia majora are hypoplastic as are the distal phalanges of the fingers and toes. Mild syndactyly of the second and third fingers and toes have been described. Conductive hearing loss may be present. Growth and psychomotor development seem to be normal. The facial features tend to coarsen over time.
Autosomal recessive inheritance has been suggested but nothing is known about the gene locus. All 5 reported patients have been female.
No treatment is known.