| CHARGE | coloboma, heart disease, atresia choanae, retarded growth and retarded development and/or CNS anomal... |
|---|---|
| CHH | cartilage-hair hypoplasia |
| COACH | cerebellar vermis hypoplasia/aplasia-oligophrenia-congenital ataxia-ocular colobomata-hepatic fibros... |
| FCAH | familial cytomegaly adrenocortical hypoplasia [syndrome] |
| FDH | familial dysalbuminemic hyperthyroxinemia; focal dermal hypoplasia; formaldehyde dehydrogenase |
| scrotal tongue | A painless condition of the tongue characterised by numerous grooves or furrows on the dorsal surface. Synonym: grooved tongue, lingua fissurata, lingua plicata, scrotal tongue. (05 Mar 2000) |
|---|---|
| scrotal veins | See: anterior scrotal veins, posterior scrotal veins. (05 Mar 2000) |
| hypoplasia | <embryology> The incomplete development or underdevelopment of an organ or tissue. Origin: Gr. Plasis = formation (18 Nov 1997) |
| hypoplasia of right ventricle | Failure of development of the right ventricle resulting in its having little muscle and much connective tissue instead of the reverse. (05 Mar 2000) |
| hypoplasia of the thymus and parathyroids | Also known as the digeorge syndrome (dgs), this disorder is characterised by (1) low blood calcium levels (hypocalcaemia) due to underdevelopment (hypoplasia) of the parathyroid glands needed to control calcium; (2) underdevelopment (hypoplasia) of the thymus, an organ behind the breastbone in which lymphocytes mature and multiply; and (3) defects of the outflow tracts from the heart. most cases of dgs are due to a microdeletion in chromosome band 22q11.2. A small number of cases have defects in other chromosomes, notably 10p13. Named after the american paediatric endocrinologist angelo digeorge. Another name for dgs is the third and fourth pharyngeal pouch syndrome (since the faulty structures in dgs are embryologically derived from the third and fourth pharyngeal pouches). (12 Dec 1998) |
| dental enamel hypoplasia | <dentistry> A form of amelogenesis imperfecta characterised by incomplete formation of the dental enamel and transmitted as an x-linked or autosomal dominant trait. It is also associated with vitamin a, c, or d deficiency, infectious disease, prematurity, birth injury, rh incompatibility, trauma, or local infection. Small grooves, pits, and fissures are seen in mild cases, deep horizontal rows of pits in severe cases, or absence of enamel in extreme cases. (12 Dec 1998) |
| optic nerve hypoplasia | Congenitally small optic disk resulting from failure of development of retinal ganglion cells, with a reduced number of axons; visual impairment may be marked. See: de Morsier's syndrome. (05 Mar 2000) |
| thymic hypoplasia | diGeorge syndrome |
| thymus and parathyroids, hypoplasia of | See third and fourth pharyngeal pouch syndrome. (12 Dec 1998) |
| enamel hypoplasia | A developmental disturbance of teeth characterised by deficient or defective enamel matrix formation; may be hereditary, as in amelogenesis imperfecta, or acquired, as encountered in dental fluorosis, local infection, childhood fevers, and congenital syphilis. (05 Mar 2000) |
| focal dermal hypoplasia | A genetic skin disease characterised by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an x-linked dominant trait. (12 Dec 1998) |