View a developmental anomaly category

Developmental anomaly categoryinformation for Dysplasia

Description: A dysplasia is an abnormal organization of cells into tissue(s). In other words : A dysplasia is the process ( and the consequence) of dyshystogenesis.


Developmental anomalies associated with this developmental anomaly category :

Array
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    [Dacategory] => Array
        (
            [id] => 6
            [name] =>  Dysplasia
            [description] => A dysplasia is an abnormal organization of cells into tissue(s). 
In other words : A dysplasia is the process ( and the consequence) of dyshystogenesis.
        )

    [Thesaurus] => Array
        (
            [0] => Array
                (
                    [id] => 16
                    [name] => Osteochondrodysplasia
                    [description] => Osteochondrodysplasia is calssified as:
1-Osteodysplasia/    Osteosclerosis (Raine syndrome) - Osteopoikilosis - Osteopetrosis - Boomerang dysplasia - Hereditary multiple exostoses -
2-Osteodystrophy/   Otospondylomegaepiphyseal dysplasia - Fibrous dysplasia (McCune-Albright syndrome).
3-  Chondrodysplasia/   Achondrogenesis/Hypochondrogenesis - Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata,
4-chondrodystrophy/   Conradi-H√ľnermann syndrome) - Achondroplasia (Hypochondroplasia), Thanatophoric dysplasia - Short rib-polydactyly syndrome - Ellis-van Creveld syndrome - Spondyloepiphyseal dysplasia congenita - 
5-Both/ungrouped /    Metaphyseal dysplasia - Multiple epiphyseal dysplasia (Recessive) - Atelosteogenesis, type II - Diastrophic dysplasia - Camurati-Engelmann disease - Antley-Bixler syndrome - Skeletal dysplasia
6-Collagen diseases/     Osteogenesis imperfecta - Ehlers-Danlos syndrome 
  
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                    [ICD10_ref] => Q77-78
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                    [created] => 2008-02-15 01:00:00
                    [modified] => 2009-01-05 14:54:32
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            [1] => Array
                (
                    [id] => 122
                    [name] => Osteogenesis imperfecta
                    [description] => A genetic disorder in which osteoblasts produce defective type I collagen, leading to osteopenia, multiple fractures, severe bony deformities and considerably shortened stature.
Osteogenesis imperfecta (OI)  caused by mutations in the genes that codify for type I procollagen (ie, COL1A1 and COL1A2). 

The following 4 types of OI have been reported:

Type I - Mild forms
Type II - Extremely severe
Type III - Severe
Type IV - Undefined
Precise typing is often difficult. Severity ranges from mild forms to lethal forms in the perinatal period. In addition, several syndromes resemble OI, with congenital bone fragility in association with other distinctive clinical or histologic features(Congenital brittle bones with rhizomelia; Congenital brittle bones with redundant callus formation; Osteoporosis pseudoglioma syndrome; Congenital brittle bones with craniosynostosis and ocular proptosis (Cole-Carpenter syndrome); Congenital brittle bones with joint contractures (Bruck syndrome); Congenital brittle bones with mineralization defect; Other recessive syndromes resembling osteogenesis imperfecta)







.


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            [2] => Array
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                    [id] => 205
                    [name] => Multicystic renal dysplasia,bilateral
                    [description] => 
                    [author_id] => 1
                    [topo_code] => 41
                    [category_code] => 6
                    [system_code] => 32
                    [parent_da_code] => 849
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                    [humpath_ref] => 2418
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                    [ICD10_ref] => Q61.4 
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                    [created] => 2008-05-13 02:00:00
                    [modified] => 2008-12-22 18:33:12
                    [modified_by] => 3
                    [test] => 0
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            [3] => Array
                (
                    [id] => 207
                    [name] => Cystic dysplasia of the rete testis (CDT), bilateral
                    [description] => Cystic dysplasia of the rete testis (CDT) is a rare congenital defect, characterized by multiple irregular cystic spaces in the mediastinum of the testis that may involve the whole gonad, the majority associated with epsilateral renal malformation.
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            [4] => Array
                (
                    [id] => 255
                    [name] => Osteogenesis Imperfecta, Type III
                    [description] => Progressively deforming osteogenesis imperfecta with normal sclerae,Type III is a severe form of the disorder; its signs and symptoms fall between the very severe osteogenesis imperfecta type II and the milder osteogenesis imperfecta type I .
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                    [modified] => 2008-12-02 16:33:30
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            [5] => Array
                (
                    [id] => 294
                    [name] => Chondrodysplasia punctata
                    [description] => Erratic cartilage calcification during growth which produces the heterogeneous group of disorders that results in small ossification centers in the epiphyseal cartilage of the long bones and spine. The disease variably defined as mesomelic or rhizomelic dwarfism depending on the gene transmission. Chondrodysplasia punctata is associated with congenital cataracts, cleft palate, club feet, flexion contractures, dislocation of the hips.

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            [6] => Array
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                    [name] => Dislocation of hip, unilateral
                    [description] => Congenital deformation or misalignment of the hip joint.
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                    [topo_code] => 22
                    [category_code] => 6
                    [system_code] => 45
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                    [ICD10_ref] => Q65.0
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                    [created] => 2008-06-02 02:00:00
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            [7] => Array
                (
                    [id] => 352
                    [name] => Osteogenesis imperfecta, Type II
                    [description] => The most severe forms of osteogenesis imperfecta is type II which constitutes a disorder characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency,(osteogenesis imperfecta
type II can include an abnormally small, fragile rib cage and underdeveloped lungs).
The form  designated type IIA refers to the autosomal dominant form caused by mutation in 1 of the 2 genes that encode the chains of type I collagen (COL1A1; 120150) or COL1A2 (120160). Another form, here designated type IIB (610854), is inherited in an autosomal recessive manner and is caused by mutation in the CRTAP gene (605497). 

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            [8] => Array
                (
                    [id] => 442
                    [name] => Hitchhiker thumb
                    [description] => 'Hitchhiker' thumb is due to deformity of the first metacarpal and is the characteristic sign in patients with diastrophic dysplasia.
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                    [created] => 2008-07-21 20:17:08
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            [9] => Array
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                    [id] => 454
                    [name] => Thanatophoric dysplasia (Type I)
                    [description] => Thanatophoric dysplasia, type I, is the most common skeletal dysplasia that is lethal in neonatal period and characterized by extreme rhizomelia, and a very narrow thorax, (which leads to respiratory distress and respiratory acidosis), normal trunk length, macrocephalia and polyhydramnios.Thanatophoric dysplasia is an autosomal dominant disorder caused by specific mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene. This gene is located on the short arm of chromosome 4.
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            [10] => Array
                (
                    [id] => 483
                    [name] => Dislocation of the knee, congenital, unilateral
                    [description] => 
                    [author_id] => 3
                    [topo_code] => 24
                    [category_code] => 6
                    [system_code] => 45
                    [parent_da_code] => 874
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                    [created] => 2008-08-05 19:39:00
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            [11] => Array
                (
                    [id] => 467
                    [name] => Renal-hepatic-pancreatic dysplasia
                    [description] => Renal-Hepatic-Pancreatic dysplasia syndrome described by Ivemark in 1959 constitutes a triad pancreatic fibrosis, renal dysplasia and hepatic dysgenesis.It is an autosomal recessive disorder with renal and hepatic failure.
However, Bernstein et al. (1987) noted that similar renal, hepatic, and pancreatic abnormalities appear in other syndromes, including trisomy 9, Meckel syndrome (249000), the chondrodysplasias of Jeune (208500) and of Saldino and Noonan (263530), and type II glutaric acidemia (231680). The authors concluded that after exclusion of identifiable syndromes, the remaining cases of renal-hepatic-pancreatic dysplasia do not necessarily constitute a homogeneous group.
 at least 1 form of renal-hepatic-pancreatic dysplasia (RHPD) is caused by mutation in the NEPHROCYSTIN 3; NPHP3 gene  (608002).

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                    [name] => Dislocation of hip
                    [description] => Congenital deformation or misalignment of the hip joint
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                    [created] => 2008-07-28 16:57:15
                    [modified] => 2009-01-02 17:40:03
                    [modified_by] => 3
                    [test] => 0
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            [13] => Array
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                    [id] => 484
                    [name] => Dysplasia of hip, unilateral, congenital
                    [description] => 





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            [14] => Array
                (
                    [id] => 553
                    [name] => Myxoid dysplasia of the heart valves
                    [description] => Myxoid valvular heart dystrophies are a frequent cause of valvular diseases. These valvular diseases are a heterogeneous group of disorders and include isolated nonsyndromic valvular diseases, such as idiopathic mitral valve prolapse and the X-linked myxomatous valvular dystrophy (XMVD), and syndromic entities, such as Marfan syndrome.
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                    [created] => 2008-08-13 20:18:44
                    [modified] => 2008-12-22 18:05:17
                    [modified_by] => 3
                    [test] => 0
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            [15] => Array
                (
                    [id] => 556
                    [name] => Bowing of long bones
                    [description] => Pronounced bowing of long bones are observed in association with campomelic dysplasia, thanatophoric dwarfism, autosomal dominant osteogenesis imperfecta, achondrogenesis and hypophosphatasia. In the latter, fractures and callus formation may also be detected. 
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                    [created] => 2008-08-13 21:29:58
                    [modified] => 2008-12-19 16:08:51
                    [modified_by] => 3
                    [test] => 0
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            [16] => Array
                (
                    [id] => 568
                    [name] => Decreased skull bone mineralization
                    [description] => Decreased skull bone mineralization  mostly associated  with osteogenesis imperfecta (OI) 
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                    [topo_code] => 46
                    [category_code] => 6
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                    [created] => 2008-08-15 21:23:40
                    [modified] => 2008-12-31 19:28:07
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            [17] => Array
                (
                    [id] => 584
                    [name] => Diastrophic Dysplasia
                    [description] => Skeletal dysplasias are a heterogeneous group of dysplasias of growth and remodeling of bone and cartilage. Diastrophic dysplasia is considered a short-limb dwarfing condition.This term describes dwarfism with perhaps the most numerous and severe skeletal abnormalities from cervical spine to the feet. In the past, this condition was referred to as achondroplasia with clubfeet or arthrogryposis multiplex congenita.
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            [18] => Array
                (
                    [id] => 619
                    [name] => Segmental cystic dysplasia of Kidney
                    [description] => Usually seen in Trisomy 13
                    [author_id] => 3
                    [topo_code] => 41
                    [category_code] => 6
                    [system_code] => 32
                    [parent_da_code] => 849
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                    [created] => 2008-08-26 15:06:52
                    [modified] => 2008-12-22 18:46:40
                    [modified_by] => 3
                    [test] => 0
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            [19] => Array
                (
                    [id] => 697
                    [name] => Dysplastic kidney with tubular cysts
                    [description] => Expansion of glomerular cysts with tubular dilatation (cysts) disturbs the subsequent nephron induction and may contribute to the abnormal development of fetal kidneys.
                    [author_id] => 3
                    [topo_code] => 41
                    [category_code] => 6
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                    [parent_da_code] => 850
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                    [created] => 2008-09-12 15:47:12
                    [modified] => 2009-01-02 20:35:45
                    [modified_by] => 3
                    [test] => 0
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            [20] => Array
                (
                    [id] => 699
                    [name] => Hereditary urogenital dysplasia
                    [description] => Hereditary urogenital dysplasia consists of hereditary renal adysplasia , renal agenesis , urinary tract malformations , uterine anomalies

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                    [topo_code] => 18
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                    [created] => 2008-09-12 16:08:55
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            [21] => Array
                (
                    [id] => 701
                    [name] => Short rib polydactyly syndrome, type 1
                    [description] => Short rib polydactyly syndromes are lethal forms of skeletal dysplasia, characterized by thoracic hypoplasia, polydactyly and shortening of the long bones. Three types of the disorder were described: 
Type I: described by Saldino and Noonan in 1972 without facial dysmorphism 
Type II: described by Majewski in 1971, with clef lip & palate,facial dysmorphism
Type III: described by Naumoff in 1977 
Clinical, radiographic and morphologic studies suggest that types I and III just represent phenotypic variations of the same disorder. 


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            [22] => Array
                (
                    [id] => 712
                    [name] => vertebral bones and gracile ribs with multiple abnormalities
                    [description] => 
                    [author_id] => 3
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                    [system_code] => 9
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                    [wiki_ref] => 
                    [created] => 2008-09-19 15:22:19
                    [modified] => 2008-12-16 21:08:05
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [23] => Array
                (
                    [id] => 717
                    [name] => Multicystic renal dysplasia, unilateral
                    [description] => 
                    [author_id] => 3
                    [topo_code] => 41
                    [category_code] => 6
                    [system_code] => 32
                    [parent_da_code] => 0
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                    [created] => 2008-09-23 15:28:18
                    [modified] => 2008-12-22 18:53:10
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [24] => Array
                (
                    [id] => 738
                    [name] => Gracile ribs
                    [description] => 
                    [author_id] => 3
                    [topo_code] => 3
                    [category_code] => 6
                    [system_code] => 44
                    [parent_da_code] => 862
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                    [created] => 2008-10-02 21:47:03
                    [modified] => 2008-12-29 21:07:15
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [25] => Array
                (
                    [id] => 743
                    [name] => Bone mineralization defect
                    [description] => 
                    [author_id] => 3
                    [topo_code] => 0
                    [category_code] => 6
                    [system_code] => 44
                    [parent_da_code] => 0
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                    [wiki_ref] => 
                    [created] => 2008-10-06 15:13:18
                    [modified] => 2008-12-04 16:01:44
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [26] => Array
                (
                    [id] => 849
                    [name] => Multicystic renal dysplasia
                    [description] => Multicystic renal dysplasia or multicystic dysplasia of the kidney (MCDK) is the most common cause of an abdominal mass in the newborn period.It results from abnormal differentiation of the metanephric parenchyma during embryologic development of the kidney.. MCDK is a form of renal dysplasia characterized by the presence of multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. Multicystic renal dysplasia was termed "Type II" in the Potter classification
                    [author_id] => 3
                    [topo_code] => 41
                    [category_code] => 6
                    [system_code] => 32
                    [parent_da_code] => 850
                    [adicap_ref] => 
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                    [omim_ref] => 
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                    [ICD10_ref] => Q61.4
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                    [wiki_ref] => 
                    [created] => 2008-12-22 18:22:33
                    [modified] => 2008-12-22 18:42:39
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [27] => Array
                (
                    [id] => 871
                    [name] => Skeletal dysplasia
                    [description] => Skeletal dysplasias are a heterogeneous group of more than 200 disorders characterized by abnormalities of cartilage and bone growth, resulting in abnormal shape and size of the skeleton and disproportion of the long bones, spine, and head.
In general, patients with disproportionately short stature have skeletal dysplasia (osteochondrodysplasia). 
The 4 most common skeletal dysplasias are thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta, and achondrogenesis. Thanatophoric dysplasia and achondrogenesis account for 62% of all lethal skeletal dysplasias. Achondroplasia is the most common nonlethal skeletal dysplasia.

                    [author_id] => 3
                    [topo_code] => 1
                    [category_code] => 6
                    [system_code] => 9
                    [parent_da_code] => 0
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                    [created] => 2009-01-02 16:42:52
                    [modified] => 2009-01-07 14:28:49
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [28] => Array
                (
                    [id] => 872
                    [name] => Diastrophic dysplasia
                    [description] => Diastrophic dysplasia is considered a short-limb dwarfing condition. Additional terms used to describe the segment of the limb with the greatest involvement are rhizomelic (proximal), mesomelic (middle), and acromelic (distal). In diastrophic dysplasia, the extremity involvement is rhizomelic (in 40% of cases) or mesomelic (in 29% of cases).

                    [author_id] => 3
                    [topo_code] => 5
                    [category_code] => 6
                    [system_code] => 9
                    [parent_da_code] => 871
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                    [created] => 2009-01-02 16:55:10
                    [modified] => 2009-01-07 14:27:09
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [29] => Array
                (
                    [id] => 874
                    [name] => Dislocation of the knee, congenital
                    [description] => Congenital dislocation of the knee (CDK) is a relatively rare birth defect where the baby's knees are not in their normal position. In half of the cases, the knee is twisted so that it faces outward rather than being positioned in a straight line with the rest of the leg. 

                    [author_id] => 3
                    [topo_code] => 24
                    [category_code] => 6
                    [system_code] => 45
                    [parent_da_code] => 0
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                    [wiki_ref] => 
                    [created] => 2009-01-02 18:00:39
                    [modified] => 2009-01-02 18:05:23
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [30] => Array
                (
                    [id] => 876
                    [name] => Brain cysts
                    [description] => Cysts located in the brain are not truly "brain tumors" since they do not arise from the brain tissue itself.Cerebral cysts are classified as arachnoid, dermoid, epidermoid, and cysts within tumors.
                    [author_id] => 3
                    [topo_code] => 61
                    [category_code] => 6
                    [system_code] => 12
                    [parent_da_code] => 0
                    [adicap_ref] => 
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                    [wiki_ref] => 
                    [created] => 2009-01-02 21:32:05
                    [modified] => 2009-01-05 20:48:54
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [31] => Array
                (
                    [id] => 898
                    [name] => Trident hand
                    [description] => Trident-like appearamce of the hand. A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape; seen in achondroplasia. 


                    [author_id] => 2
                    [topo_code] => 33
                    [category_code] => 6
                    [system_code] => 9
                    [parent_da_code] => 0
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                    [created] => 2009-05-20 18:07:18
                    [modified] => 2011-03-23 14:02:49
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

        )

)