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The small orbit size characteristic of microphthalmia can impact the growth and structural development of the face after birth. As a result, microphthalmia can cause hemifacial asymmetry. [ 3 ] [ 13 ] This possibility is a particular concern for individuals with unilateral cases of microphthalmia.
Microphthalmia, syndromic 12 (MCOPS12) is an ultra-rare and complex neurological disease. It is caused by a single-point missense mutation in the retinoic acid receptor beta (RARB) gene . The most common disease symptoms are microphthalmia , severe (progressive) movement disorders and intellectual disability . [ 1 ]
Syndromic microphthalmia is a class of rare congenital anomalies characterized by microphthalmia along with other non-ocular malformations. [2] Syndromic microphthalmia accounts for 60 to 80% of all cases of microphthalmia. [ 2 ]
Lenz microphthalmia syndrome is inherited as an X-linked recessive genetic trait and is fully expressed in males only. Females who carry one copy of the disease gene (heterozygotes) may exhibit some of the symptoms associated with the disorder, such as an abnormally small head (microcephaly), short stature, or malformations of the fingers or toes.
Occasional problems: ptosis of the eyelid, microphthalmia, webbed neck, short neck, radioulnar synostosis, spina bifida, and hydrocephalus. Alcohol can also harm the fertility of women who are planning for pregnancy. Adverse effects of alcohol can lead to malnutrition, seizures, vomiting and dehydration.
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Its highly rare in males, but some males were born with it. Teeth with large roots (radiculomegaly), heart defects and small eyes (microphthalmia) are the characteristic triad found in this syndrome. Typical features of the condition include: [citation needed] Face Deep set eyes; Broad nasal tip divided by a cleft; Eyes Microphthalmia (small eyes)
Microphthalmia–dermal aplasia–sclerocornea syndrome is a condition characterized by linear skin lesions. [ 1 ] [ 2 ] MLS is a rare X-linked dominant male -lethal disease characterized by unilateral or bilateral microphthalmia and linear skin defects in affected females , and in utero lethality for affected males. [ 3 ]