A number sign (#) is used with this entry because of evidence that aniridia-3 (AN3) is caused by heterozygous mutation in the TRIM44 gene (612298) on chromosome 11p13. One such family has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of aniridia, see AN1 (106210). Clinical Features Zhang et al. (2015) studied a 4-generation Chinese family in which 8 patients had aniridia without systemic abnormalities. The patients ranged in age from 7 to 55 years, and all had complete bilateral defects of the iris. Visual acuity gradually decreased over time due to the irregular lens opacity caused by lack of iris block and direct exposure to the sun.

A number sign (#) is used with this entry because of evidence that aniridia-2 (AN2) is caused by heterozygous mutation in a PAX6 (607108) cis-regulatory element (SIMO) that resides in an intron of the adjacent ELP4 gene (606985) on chromosome 11p13. One such patient has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of aniridia, see AN1 (106210). Clinical Features Bhatia et al. (2013) studied a 17-year-old boy with aniridia who was diagnosed at 2 years of age with bilateral iris hypoplasia. Renal ultrasound, audiometric examination, and neurologic evaluation were normal, as were physical and psychomotor development. At 17 years of age, his bilateral aniridia was confirmed, and slit-lamp examination showed peripheral cataracts in both lenses.

A number sign (#) is used with this entry because of evidence that aniridia-1 (AN1) is caused by heterozygous mutation in the PAX6 gene (607108) on chromosome 11p13. Description Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in most cases. This feature can range from a readily visible, almost complete absence of the iris, through enlargement and irregularity of the pupil mimicking a coloboma, to small slit-like defects in the anterior layer seen only on transillumination with a slit-lamp. The effect on vision is similarly variable (summary by Jordan et al., 1992). Genetic Heterogeneity of Aniridia There is also evidence that aniridia-2 (AN2) is caused by mutation in a PAX6 cis-regulatory element (SIMO) that resides in an intron of the adjacent ELP4 gene (606985), and that aniridia-3 (AN3) is caused by mutation in the TRIM44 gene (612298) on chromosome 11p13.

Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris) and is usually associated with foveal hypoplasia (underdevelopment of the part of the eye responsible for sharp central vision). This combination can lead to decreased visual acuity and involuntary eye movements (nystagmus) in affected infants. People with aniridia may also have other eye problems including increased pressure in the eye (glaucoma), clouding of the lens of the eye (cataracts), and abnormalities of the cornea. Many of these eye problems contribute to progressive vision loss in affected individuals. Occasionally, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.

Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris. Epidemiology The annual incidence is estimated at 1/ 64,000- 1/ 96,000. Clinical description Isolated aniridia can occur in association with a range of other ocular anomalies including cataract, glaucoma (usually occurring during adolescence), corneal pannus, optic nerve hypoplasia, absence of macular reflex, ectopia lentis, nystagmus, and photophobia, all of which generally result in poor vision. Etiology Aniridia is due to mutations in the PAX6 gene (11p13) encoding a transcriptional regulator involved in oculogenesis. PAX6 mutations result in alterations in corneal cytokeratin expression, cell adhesion and glycoconjugate expression.

Persistent genital arousal disorder (PGAD) in men may be considered as the condition of priapism and unwanted ejaculatory fluids being released without any sexual interest. In women there is still no consensus about a formal definition, but some of the experts propose that in women it should be defined as a rare, unwanted, and intrusive sexual dysfunction associated with excessive and unremitting genital arousal and engorgement in the absence of sexual interest. The persistent genital arousal usually does not resolve with orgasm and causes personal distress. Features include excessive excitement or excessive genital (lubrication, swelling, and engorgement) or other somatic responses. Causes may be neurological (central or peripheral involving the pudendal nerve), related to medication, vascular, hormonal, psychological or others.

Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding.

A number sign (#) is used with this entry because Glanzmann thrombasthenia (GT) can be caused by mutation in the gene encoding platelet glycoprotein alpha-IIb (ITGA2B; 607759) on chromosome 17q21.31 or the gene encoding platelet glycoprotein IIIa (ITGB3; 173470) on chromosome 17q21.32. Description Glanzmann thrombasthenia is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb/IIIa platelet surface fibrinogen receptor complex resulting from mutations in either the GPIIb or GPIIIa genes (Rosenberg et al., 1997). See 187800 for discussion of a possible dominant form. Clinical Features Glanzmann thrombasthenia has been classified clinically into types I and II. In type I, platelets show absence of the glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability.

Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.

Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. Signs and symptoms vary greatly from person to person. Symptoms usually include abnormal bleeding, which can be severe. Other symptoms may include easy bruising, nose bleeds , bleeding from the gums, and/or heavy menstrual bleeding. Rarely, internal bleeding and blood in the urine ( hematuria ) can occur.

Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic. Epidemiology It is a very rare condition occurring in around 1 per 150,000 live births. Clinical description 'The disease mainly affects newborn infants (or those younger than 6 months of age) with a normal heart and no other underlying illness. Most infants are asymptomatic but some may show shortness of breath or respiratory distress. Less often, the disorder may occur in children with heart malformations (such as hypertrophic cardiomyopathy, tetralogy of Fallot, or atrioventricular canal defect; see these terms) or in those having recently undergone an open-heart surgery.

Overview Horner syndrome is a condition that affects the face and eye on one side of the body. It is caused by the disruption of a nerve pathway from the brain to the head and neck. Horner syndrome signs Decreased eye pupil size is a key sign of Horner syndrome. Typically, signs and symptoms of Horner syndrome include decreased pupil size, a drooping eyelid and decreased sweating on the affected side of the face. Horner syndrome may be the result of another medical problem, such as a stroke, tumor or spinal cord injury.

Horner's syndrome is a rare condition characterized by miosis (constriction of the pupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It is caused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, injury, or underlying disease affecting the areas surrounding the sympathetic nerves. In rare cases, Horner's syndrome is congenital (present from birth) and may be associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause.