Abnormal in form. From the Greek dys- (bad, disordered, abnormal) and plassein (to form). For example, retinal dysplasia is abnormal formation of the retina during embryonic development.
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Abnormal tissue development. SEE ALSO: heteroplasia. [dys- + G. plasis, a molding]
- anhidrotic ectodermal d. [MIM*305100] a disorder characterized by absent or defective sweat glands, saddle-shaped nose, hyperpigmentation around the eyes, malformed or missing teeth, sparse hair, dysplastic nails, smooth, finely wrinkled skin, syndactyly, absent breast tissue, and occasionally mental retardation; X-linked recessive inheritance, caused by mutation in the ED1 gene on chromosome Xq. There is also an autosomal recessive form [MIM*224900]. SYN: hypohidrotic ectodermal d..
- anterofacial d., anteroposterior facial d., anteroposterior d. abnormal growth of the face or cranium in an anteroposterior direction as seen and measured with a cephalogram.
- asphyxiating thoracic d. [MIM*208500] SYN: asphyxiating thoracic dystrophy.
- branchiootorenal d. an autosomal dominant disorder manifested by branchial cysts, preauricular skin tags or sinuses, ear anomalies, and kidney malformations. SYN: BOR syndrome.
- bronchopulmonary d. chronic pulmonary insufficiency seen primarily in infants born prematurely; defined clinically as a persistent supplemental oxygen requirement at 1 month of age and typically seen in infants who required positive pressure ventilation.
- cervical d. d. of the uterine cervix, epithelial atypia involving part or all of the thickness of cervical squamous epithelium, occurring most often in young women; appears to regress frequently, but may progress over a long period to carcinoma; severe d. may be microscopically indistinguishable from carcinoma in situ.
- chondroectodermal d. [MIM*225500] triad of chondrodysplasia, ectodermal d., and polydactyly, with congenital heart defects in over half of patients; autosomal recessive inheritance. Maps to human chromosome 4p16. SYN: Ellis-van Creveld syndrome.
- cleidocranial d., clidocranial d. SYN: cleidocranial dysostosis.
- cochlear d. failure of the bony cochlea to develop completely.
- congenital ectodermal d. incomplete development of the epidermis and skin appendages; the skin is smooth and hairless, the facies abnormal, and the teeth and nails may be affected; sweating may be deficient. SYN: congenital ectodermal defect.
- congenital hip d. SYN: developmental hip d..
- cortical d. a malformative disorganization of the cytoarchitecture of the cortex relative to neurons. SYN: cortical dysgenesis, neuronal migration abnormality.
- craniocarpotarsal d. SYN: craniocarpotarsal dystrophy.
- craniodiaphysial d. [MIM*218300] small stature, thickening of the cranial bones with sclerosis and diaphysial widening of tubular bones; autosomal recessive inheritance. There may also be an autosomal dominant form [MIM 122860].
- craniometaphysial d. syndrome of metaphysial d. associated with severe sclerosis and overgrowth of bones of the skull (leontiasis ossea) and with hypertelorism.
- dentin d. a hereditary disorder of the teeth, involving both primary and permanent dentition, in which the clinical morphology and color of the teeth are normal, but the teeth radiographically exhibit short roots [MIM125400], obliteration of the pulp chambers and canals, and mobility and premature exfoliation; autosomal dominant inheritance. In another type of dentin disease the teeth are opalescent [MIM 125420].
- developmental hip d. a developmental abnormality in which a neonate's hips easily become dislocated; etiology is complex, with mechanical, familial, hormonal, and birthing presentation all contributing; female predominance is 9:1. SYN: congenital hip d..
- diaphysial d. progressive, symmetrical fusiform enlargement of the shafts of long bones characterized by the formation of excessive new periosteal and endosteal bone and irregular conversion of this cortical bone into cancellous bone; anemia does not occur as a rule, as in osteopetrosis. SYN: Engelmann disease.
- diastrophic d. [MIM*222600] a skeletal d. characterized by scoliosis, hitchhiker thumb due to shortening of the first metacarpal bone, cleft palate, malformed ear with calcification, chondritis, shortening of the Achilles tendon, clubbed foot, and characteristic radiologic findings; autosomal recessive inheritance, caused by mutation in the diastrophic d. sulfate transporter gene (DTDST) on chromosome 5q. SYN: diastrophic dwarfism.
- ectodermal d. a congenital defect of the ectodermal tissues, including the skin and its appendages; associated with d. of the teeth and hyperthermia. See anhidrotic ectodermal d., hidrotic ectodermal d..
- enamel d. SYN: amelogenesis imperfecta.
- d. epiphysealis multiplex SYN: multiple epiphyseal d..
- d. epiphysialis hemimelia SYN: tarsomegaly.
- d. epiphysialis punctata SYN: chondrodysplasia punctata.
- epithelial d. a disorder of differentiation of epithelial cells which may regress, remain stable, or progress to invasive carcinoma.
- faciodigitogenital d. a syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag or shawl scrotum, protruding umbilicus, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; the X-linked form [MIM*305400] is caused by mutation in the FGD1 gene on Xp; autosomal dominant [MIM*100050] and recessive [MIM*227300] forms also exist. SYN: Aarskog-Scott syndrome.
- familial white folded d. SYN: white sponge nevus.
- fibromuscular d. idiopathic nonatherosclerotic disease leading to stenosis of arteries, usually the renal arteries, and hypertension; two varieties are fibromuscular hyperplasia and perimuscular fibrosis.
- fibrous d. of bone a disturbance of medullary bone maintenance in which bone undergoing physiologic lysis is replaced by abnormal proliferation of fibrous tissue, resulting in asymmetric distortion and expansion of bone; may be confined to a single bone (monostotic fibrous d.) or involve multiple bones (polyostotic fibrous d.).
- fibrous d. of jaws SYN: cherubism.
- florid osseous d., cemental d. SYN: sclerotic cemental mass.
- hidrotic ectodermal d. [MIM*129500] congenital dystrophy of the nails and hair with thickened nails and sparse or absent scalp hair; often associated with keratoderma of the palms and soles; teeth and sweat gland function are normal; autosomal dominant inheritance.
- hypohidrotic ectodermal d. SYN: anhidrotic ectodermal d..
- mandibulofacial d. SYN: mandibulofacial dysostosis.
- McKusick metaphyseal d. SYN: cartilage-hair hypoplasia.
- metaphysial d. an abnormality that occurs when new bone at the metaphyses of long bones fails to undergo remodeling to the normal tubular structure; the ends of long bones appear to be expanded and porotic, with thin cortex; there may be an associated overgrowth of cranial bones (craniometaphysial d.).
- Mondini d. congenital anomaly of osseus and membranous otic labyrinth characterized by aplastic cochlea, and deformity of the vestibule and semicircular canals with partial or complete loss of auditory and vestibular function; may be associated with spontaneous cerebrospinal fluid otorrhoea resulting in meningitis. SEE ALSO: Mondini hearing impairment.
- monostotic fibrous d. fibrous d. of a single bone. SYN: localized osteitis fibrosa, osteitis fibrosa circumscripta.
- mucoepithelial d. [MIM*158310] an epithelial cell dishesive disease characterized by red, periorificial mucosal lesions of oral, nasal, vaginal, urethral, anal, bladder, and conjunctival mucosa, with cataracts, follicular keratosis, nonscarring alopecia, frequent pulmonary infections, pneumothorax, and sometimes cor pulmonale; autosomal dominant inheritance.
- multiple epiphyseal d. (EDM) a disorder of epiphyses characterized by difficulty in walking, pain and stiffness of joints, stubby fingers, and often short stature; on X-ray examination, the epiphyses are irregular and mottled, the ossification centers are late in appearance and may be multiple, but the vertebrae are normal. There are at least 3 forms of autosomal dominant inheritance : EDM1 [MIM*132400] due to mutation in the cartilage oligomeric matrix protein gene (COMP) on chromosome 19p; EDM2 [MIM*600304], due to mutation in the type IX collagen gene (COL9A2) on 1p; and EDM3 [MIM*600969], which is linked to an unknown locus. There is also an autosomal recessive form [MIM*226900]. SYN: d. epiphysealis multiplex.
- neuronal intestinal d. SYN: neuronal hyperplasia.
- oculoauriculovertebral d., OAV d. [MIM*257700] a syndrome characterized by epibulbar dermoids, preauricular appendages, micrognathia, and vertebral and other anomalies. SYN: Goldenhar syndrome, OAV syndrome.
- oculodentodigital d. [MIM*164200] 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. There is also a recessive form in which the ocular manifestation is more severe [MIM*257850].
- oculovertebral d. microphthalmia, colobomas, or anophthalmia with small orbit, twisted face due to unilateral d. of maxilla, macrostomia with malformed teeth and malocclusion, vertebral malformations, and branched and hypoplastic ribs. SYN: oculovertebral syndrome, Weyers-Thier syndrome.
- odontogenic d. SYN: odontodysplasia.
- ophthalmomandibulomelic d. [MIM*164900] an autosomal dominant disorder with corneal clouding and multiple abnormalities of the mandible and limbs.
- otospondylomegaepiphyseal d. SYN: chondrodystrophy with sensorineural deafness.
- periapical cemental d. a benign, painless, non-neoplastic condition of the jaws which occurs almost exclusively in middle-aged black females; lesions are usually multiple, most frequently involve vital mandibular anterior teeth, surround the root apices, and are initially radiolucent (becoming more opaque as they mature). SYN: periapical osteofibrosis.
- polyostotic fibrous d. the occurrence of lesions of fibrous d. in multiple bones, commonly on one side of the body; may occur with areas of pigmentation and endocrine dysfunction (McCune-Albright syndrome). SYN: multifocal osteitis fibrosa, osteitis fibrosa disseminata.
- pseudoachondroplastic spondyloepiphysial d. SYN: pseudoachondroplasia.
- retinal d. an overgrowth of glial tissue compensating for aplasia of sensory elements.
- septooptic d. congenital optic nerve hypoplasia associated with midline cerebral anomalies. SYN: de Morsier syndrome.
- skeletal dysplasias a heterogeneous group of disorders (over 120 types), each of which results in numerous disturbances of the skeletal system and most of which include dwarfism. SEE ALSO: chondrodystrophy.
- spondyloepiphyseal d. a group of conditions characterized by growth deficiency of the vertebral column with flattening of the vertebrae or platyspondyly, lack of ossification of the epiphyses, short-trunk dwarfism with limb shortening, and sometimes with other malformations; autosomal dominant [MIM*183900 and MIM*184100], autosomal recessive [MIM*208230 and MIM*271600], and X-linked recessive [MIM*313400] inheritance have been described.
- spondyloepiphyseal d. congenita (SEDC) [MIM*183900] a skeletal d. characterized by short-trunk dwarfism with short limbs, delayed ossification of the pubic rami and femoral and tibial epiphyses, flattening of the vertebral bodies, myopia, retinal detachment, and cleft palate; autosomal dominant inheritance caused by mutation in the type II collagen gene (COL2A1) on 12q.
- spondyloepiphyseal d. tarda a skeletal d. of later onset, usually in the second decade, characterized by short stature, flattening of the vertebrae, epiphyseal involvement with bony fusion of the hip joint, premature osteoarthritis, and distinctive radiographic findings. Autosomal dominant [MIM*184100] and X-linked recessive [MIM*313400] forms exist.
- ventriculoradial d. a congenital syndrome consisting of a ventricular septal defect with associated absence of thumb or radius.

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dys·pla·sia dis-'plā-zh(ē-)ə n
1) variation in somatotype (as in degree of ectomorphy, endomorphy, or mesomorphy) from one part of a human body to another
2) abnormal growth or development (as of organs or cells) broadly abnormal anatomic structure due to such growth
dys·plas·tic -'plas-tik adj

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abnormal development of skin, bone, or other tissues. See also bronchopulmonary dysplasia, fibrous dysplasia.
dysplastic adj.

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dys·pla·sia (dis-plaґzhə) [dys- + -plasia] 1. abnormality of development. 2. in pathology, alteration in size, shape, and organization of adult cells. See also dysgenesis and dyspoiesis.

Medical dictionary. 2011.

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