| COFS | cerebro-oculo-facial-skeletal [syndrome] |
|---|---|
| FH | facial hemihyperplasia; familial hypercholesterolemia; family history; fasting hyperbilirubinemia; f... |
| ICF | immunodeficiency-centromeric instability-facial anomalies [syndrome]; indirect centrifugal flotation... |
| NAP | nasion, point A, pogonion [convexity or concavity of the facial profile]; nerve action potential; ne... |
| OFD | object-film distance; occipital frontal diameter; oro-facial-digital [syndrome] |
| dysplasia | <embryology> Abnormality of development, in pathology, alteration in size, shape and organisation of adult cells. Origin: Gr. Plassein = to form (18 Nov 1997) |
|---|---|
| dysplasia epiphysialis hemimelia | A congenital maldevelopment and overgrowth of a tarsal or carpal bone. Synonym: dysplasia epiphysialis hemimelia. Origin: tarso-+ G. Megas, large (05 Mar 2000) |
| dysplasia epiphysialis multiplex | A dominantly inherited abnormality of epiphyses characterised by difficulty in walking, pain and stiffness of joints, stubby fingers, and often dwarfism of short-limb type; on X-ray examination, the epiphyses are mottled and irregular; ossification centres are late in appearance and may be multiple, but the vertebrae are normal. There is also an autosomal recessive form . Synonym: dysplasia epiphysialis multiplex. (05 Mar 2000) |
| dysplasia epiphysialis punctata | A developmental error of the epiphyses characterised by severe deformities, epiphyses ossified from several discrete centres and with a stippled appearance, and thickened shafts of the long bones; congenital cataract and mental retardation are often present. There is an autosomal dominant form and an autosomal recessive form. Synonym: chondrodysplasia punctata, chondrodystrophia calcificans congenita, hypoplastic foetal chondrodystrophy, stippled epiphysis. (05 Mar 2000) |
| oculoauriculovertebral dysplasia | A syndrome characterised by epibulbar dermoids, preauricular appendages, micrognathia, and vertebral and other anomalies. Synonym: Goldenhar's syndrome, OAV syndrome. (05 Mar 2000) |
| oculodentodigital dysplasia | Microphthalmia, coloboma, or anomalies of the iris associated with malformed and malpositioned teeth and with anomalies of the fingers including syndactyly, campylodactyly, or absent phalanges; autosomal dominant inheritance. (05 Mar 2000) |
| oculovertebral dysplasia | Microphthalmia, colobomas, or anophthalmia with small orbit, twisted face due to unilateral dysplasia of maxilla, macrostomia with malformed teeth and malocclusion, vertebral malformations, and branched and hypoplastic ribs. Synonym: oculovertebral syndrome, Weyers-Thier syndrome. (05 Mar 2000) |
| odontogenic dysplasia | A localised arrested tooth development which appears to involve most commonly the anterior teeth, usually on one side of the midline, most often the maxillary central and lateral incisors. Roentgenographically, the teeth have a ghostlike appearance. Calcification and bits of prismatic enamel may be found in the pulp and the enamel is thin and absent in part. (12 Dec 1998) |
| ophthalmomandibulomelic dysplasia | An autosomal dominant disorder with corneal clouding and multiple abnormalities of the mandible and limbs. (05 Mar 2000) |
| thanatophoric dysplasia | A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or in the neonatal period. (12 Dec 1998) |
| ectodermal dysplasia | A hereditary condition (most often x linked) that is characterised by the abnormal development of skin, absence of sweat glands, dry eyes and abnormal development of teeth. Symptoms include absent teeth, peg teeth, inability to sweat, thin skin and heat intolerance. Mucous membrane involvement may result in a foul-smelling nasal discharge. The inability to sweat leads to the inability to maintain normal body temperature in a warm environment. Some may exhibit fevers and will require artificial cooling. Origin: Gr. Plassein = to form (27 Sep 1997) |
| ectrodactyly-ectodermal dysplasia-clefting syndrome | <syndrome> An autosomal recessive disorder resulting in defects of hands and feet; the ectodermal dysplasia causes fair skin, anodontia, and cleft palate. (05 Mar 2000) |
| enamel dysplasia | An autosomal dominant or x-linked disorder in which there is faulty development of the dental enamel owing to agenesis, hypoplasia, or hypocalcification of the enamel. It is marked by enamel that is very thin and friable and frequently stained in various shades of brown. (12 Dec 1998) |
| epithelial dysplasia | A disorder of differentiation of epithelial cells which may regress, remain stable, or progress to invasive carcinoma. (05 Mar 2000) |
| faciodigitogenital dysplasia | A syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag scrotum, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; X-linked and autosomal dominant forms. Synonym: Aarskog-Scott syndrome. (05 Mar 2000) |