Microphthalmia (or microphthalmos) means small eyes. In mammals the failure of expression of a transcription factor, MITF (microphthalmia-associated transcription factor), in the pigmented retina prevents this structure from fully differentiating. This in turn causes a malformation of the choroid fissure of the eye, resulting in the drainage of vitreous humor fluid. Without this fluid, the eye fails to enlarge, thus the name microphthalmia.
Microphthalmia and mental deficiency: A very rare syndrome characterized mainly by small eyes and mental deficiency.
Microphthalmia associated with colobomatous cyst: A rare eye disorder characterized by small eyes and a colobomatous cyst.
A very rare disorder characterized by the association of small eyes, mental retardation and permanently flexed fingers.
Microphthalmia - cataract: A very rare syndrome characterized mainly by small eyes and cataracts.
Abnormally small eyes.
Microphthalmia and mental deficiency: A very rare syndrome characterized mainly by small eyes and mental deficiency.
A very rare syndrome characterized mainly by small eyes, small ears and a lack of fetal movement.
Usher (1921) described a family with microphthalmia, myopia, corectopia, and microcornea in 11 members over 4 generations. Six family members also had rotatory nystagmus. There were 3 instances of male-to-male transmission.
Important It is possible that the main title of the report Lenz Microphthalmia Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms * Lenz Syndrome * Lenz Dysplasia * Microphthalmia or Anophthalmos with Associated Anomalies (obsolete) * MAA * Lenz Dysmorphogenetic Syndrome Disorder Subdivisions * None General Discussion Lenz Microphthalmia syndrome is an extremely rare inherited disorder characterized by abnormal smallness of one or both eyes (unilateral or bilateral microphthalmos) and/or droopy eyelids (blepharoptosis), resulting in visual impairment. In rare cases, affected infants may exhibit complete absence of the eyes (anophthalmia). Most affected infants also exhibit developmental delay and mental retardation, ranging from mild to severe. Additional physical abnormalities are often associated with this disorder such as an unusually small head (microcephaly) and/or malformations of the teeth, ears, and/or fingers and/or toes (digits). The range and severity of findings may vary from case to case. Lenz microphthalmia syndrome, which is inherited as an X-linked recessive genetic trait, is fully expressed in males only. However, 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, and/or malformations of the fingers and/or toes. BCOR (MAA2 locus) is the only gene known to be associated with this syndrome.
Microphthalmia, syndromic 7: A rare genetic disorder characterized by eye and skin abnormalities involving irregular red streaks of skin on the head and neck.
Microscopic polyangiitis (MPA) is an ill-defined autoimmune disease characterized by pauci-immune, necrotizing, small-vessel vasculitis without clinical or pathological evidence of necrotizing granulomatous inflammation. Because many different organ systems may be involved, a wide range of symptoms are possible in MPA. Purpura and livedo may be present.
Microsomia - hemifacial - radial defects: A very rare syndrome characterized mainly by a wide range of defects involving the face, ear, mouth, vertebrae and radial bones.
Microspherophakia with hernia: A rare disorder characterized by myopia, detached retina, inguinal hernia and small, spherical, upward dislocated eye lens.
Microsporidiosis: An infectious disease caused by a certain group of protozoa which form spores (microsporidia) e.g. Encephalitozoon, Enterocytozoon, Nosema, Pleistophora, Trachipleistophora, Vittaforma, Enterocytozoon bieneusi, Enterocytozoan )Septata) intestinalis). The protozoa invade and live inside the hosts cells. The release spores into the gastrointestinal tract where they are excreted and can infect other animals. The infection is often asymptomatic in healthy people but can cause serious symptoms affecting various parts of the body in immunocompromised people.
A dominantly inherited disorder involving small ears, imperforate nasolacrimal duct and eye coloboma.
We report on three sibs with right-sided microtia, meatal atresia, and conductive deafness. Two of the sibs also had right-sided palatoplegia. These sibs may have the autosomal-recessive form of microtia (No. 25180, McKusick [1983]), of which few familial cases are known to date. The malformation is due to a disturbance of the development of the first and second branchial arches. Review of the literature shows that microtia and meatal atresia with or without middle-ear involvement are developmental field defects which, either isolated or as a part of the facio-auriculovertebral spectrum, may occur (1) sporadically, (2) as component manifestation of syndromes, (3) as a multifactorial, or (4) as an apparent Mendelian trait.
Microtia is a condition in which the external portion of the ear (the auricle) is malformed. In the strictest definition, there is also narrowing or absence of the external auditory canal (external auditory meatus). This is different from a “small ear” in which the ear is normally shaped, but smaller than normal as in Down syndrome. Microtia varies in severity from barely discernable to an external ear with major structural changes. Anotia is the total absence of the auricle most often with narrowing or absence of the external auditory meatus. Anotia/microtia can occur unilaterally or bilaterally.
Microvillus Inclusion Disease: A rare, inherited, progressive intestinal disease where a defect in the intestinal wall results in severe diarrhea after birth.
Median cleft of lower lip and mandible is a rare anomaly. It has also been described as Cleft No. 30 of Tessier's classification. Couronne' reported the first account of this anomaly in 1819[1]. Since then very few cases have been reported in literature with different variations. We came across a patient with associated ectopic salivary gland on the dorsum of tongue. Case History A six-month-old, first born, male child presented to us with median cleft of lower lip [Figure:1]. The tongue was attached to the mandible and cleft margins of lower lip
Midline development field defects (medical condition): A medical term used to describe any condition involving two or more malformations of certain types. Malformations can include such things as oral clefts, neural tube defects, diaphragmatic hernias and omphaloceles. Midline development field defects: Another name for Schisis association (or close medical condition association). Schisis association: A medical term used to describe any condition involving two or more malformations of certain types. Malformations can include such things as oral clefts, neural tube defects, diaphragmatic hernias and omphaloceles.
Midline field defects: Congenital problems that occur along the vertical axis of the body. Defects can involve the brain, spine, heart, genitals and midline of the head and face.
Midline lethal granuloma: A rare condition involving progressive destruction of the midface region which includes the nose, sinuses, palate and even the eyes.
Midphalangeal hair: The presence of hair on the back of the middle finger bone.
Mikulicz syndrome is a chronic condition characterized by the abnormal enlargement of glands in the head and neck, including those near the ears (parotids) and those around the eyes (lacrimal) and mouth (salivary). The tonsils and other glands in the soft tissue of the face and neck may also be involved. Although the disorder is almost always described as benign, it always occurs in association with another underlying disorder such as tuberculosis, leukemia, syphilis, Hodgkin’s disease, lymphosarcoma, Sjogren syndrome, or lupus (SLE). People who have Mikulicz syndrome are at heightened risk for developing lymphomas. Some people with Mikulicz syndrome may experience recurring fevers. The fever may be accompanied by dry eyes, diminished tear production (lacrimation), and inflammation of various parts of the eyes (uveitis). Lacrimal gland enlargement, parotid gland enlargement, dry mouth and dry eyes are the classic signs.
Mikulicz's Disease: A rare condition involving enlargement of the salivary and tear-producing glands. If the enlargement as a result of another condition, it is called Mikulicz syndrome.