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Generally, diseases outlined within the ICD-10 codes Q10-Q15 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category. Wikimedia Commons has media related to Congenital diseases and disorders of the eye and adnexa .
Primary congenital glaucoma is a rare eye condition that is present at birth or develops early in childhood. It occurs due to improper drainage of the eye's fluids, which leads to increased pressure inside the eye, known as intraocular pressure .
Axenfeld–Rieger syndrome is a rare autosomal dominant [2] disorder, which affects the development of the teeth, eyes, and abdominal region. [3]Axenfeld–Rieger syndrome is part of the so-called iridocorneal or anterior segment dysgenesis syndromes, [4] which were formerly known as anterior segment cleavage syndromes, anterior chamber segmentation syndromes or mesodermal dysgenesis.
Frontonasal dysplasia (FND) is a congenital malformation of the midface. [1] For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism (an increased distance between the eyes), a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele (an opening of the skull ...
When a patient has multiple abnormalities (multiple anomaly, multiple deformity), they have a congenital abnormality that cannot be primarily identified with a single system of the body or single disease process. [1]
Monofixation syndrome (MFS) (also: microtropia or microstrabismus) is an eye condition defined by less-than-perfect binocular vision. [1] It is defined by a small angle deviation with suppression of the deviated eye and the presence of binocular peripheral fusion. [2]
[9] [10] Genetic causes are linked with most craniofacial syndromes, and CL/P and other orofacial clefts are recognized as heterogeneous disorders, meaning there are multiple recognized causes. [ 9 ] [ 11 ] Orofacial clefts have great phenotypic diversity, and their associated genetic environments have called for vast research and investigation.
[10] [11] [12] The National Institutes of Health include a dental exam in the diagnostic protocol of celiac disease. [10] Enamel hypoplasia is believed to result from the dysfunction of ameloblasts—enamel-producing cells—either for a short period of time or throughout their lifespan. Enamel hypoplasia has a wide variety of known causes.