DDH1
MCID: DVL012
MIFTS: 30

Developmental Dysplasia of the Hip 1 (DDH1)

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Developmental Dysplasia of the Hip 1

MalaCards integrated aliases for Developmental Dysplasia of the Hip 1:

Name: Developmental Dysplasia of the Hip 1 56 29 71
Acetabular Dysplasia 56 13
Developmental Dysplasia of the Hip 17
Hip Dysplasia, Developmental; Ddh 56
Hip Dysplasia, Congenital; Cdh 56
Developmental Dysplasia of Hip 52
Hip Dysplasia, Developmental 56
Congenital Dysplasia of Hip 52
Hip Dysplasia, Congenital 56
Ddh1 56
Ddh 56
Cdh 56

Characteristics:

OMIM:

56
Inheritance:
multifactorial

Miscellaneous:
preponderance of affected females (80%) to males
positive family history in 12-33% patients
incidence 1-1.5/1,000 live births


HPO:

31
developmental dysplasia of the hip 1:
Inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 56 142700
OMIM Phenotypic Series 56 PS142700
MedGen 41 C1306065
SNOMED-CT via HPO 68 48334007 52781008
UMLS 71 C1306065

Summaries for Developmental Dysplasia of the Hip 1

OMIM : 56 Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000). Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006). CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970). (142700)

MalaCards based summary : Developmental Dysplasia of the Hip 1, also known as acetabular dysplasia, is related to diaphragmatic hernia, congenital and craniofacial-deafness-hand syndrome. An important gene associated with Developmental Dysplasia of the Hip 1 is AKR1C1 (Aldo-Keto Reductase Family 1 Member C1). The drugs Tranexamic Acid and Hemostatics have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and brain, and related phenotypes are congenital hip dislocation and acetabular dysplasia

Related Diseases for Developmental Dysplasia of the Hip 1

Diseases in the Developmental Dysplasia of the Hip 1 family:

Developmental Dysplasia of the Hip 2

Diseases related to Developmental Dysplasia of the Hip 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 12.5
2 craniofacial-deafness-hand syndrome 12.3
3 developmental dysplasia of the hip 2 11.6
4 diaphragmatic hernia 3 11.4
5 avascular necrosis 10.6
6 pulmonary hypertension 10.6
7 clubfoot 10.4
8 fryns syndrome 10.4
9 helix syndrome 10.3
10 torticollis 10.2
11 cerebral palsy 10.2
12 rare disease in surgical orthopedic 10.2
13 overgrowth syndrome 10.2
14 thrombophilia due to thrombin defect 10.2
15 chromosome 1q41-q42 deletion syndrome 10.2
16 scoliosis 10.2
17 onchocerciasis 10.2
18 papilledema 10.2
19 pneumothorax 10.2
20 lung disease 10.2
21 intracranial hypertension 10.2
22 legg-calve-perthes disease 10.2
23 bone resorption disease 10.2
24 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.1
25 neural tube defects 10.1
26 neuromuscular disease 10.1
27 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
28 osteonecrosis 10.1
29 osteochondrosis 10.1
30 osteoarthritis 10.1
31 malignant hyperthermia 10.1
32 47,xyy 10.1
33 48,xyyy 10.1
34 hip subluxation 10.1
35 metatarsus adductus 10.1
36 mycobacterium xenopi 10.1
37 chronic pain 10.1
38 inflammatory myopathy with abundant macrophages 10.1
39 locked-in syndrome 10.1
40 quadriplegia 10.1
41 exostosis 10.1
42 chondromalacia 10.1
43 thrombophlebitis 10.1
44 marfan syndrome 10.1
45 protrusio acetabuli 10.1
46 alkuraya-kucinskas syndrome 10.1
47 muscular atrophy 10.1
48 specific language disorder 10.1
49 congenital amyoplasia 10.1
50 congenital torticollis 10.0

Graphical network of the top 20 diseases related to Developmental Dysplasia of the Hip 1:



Diseases related to Developmental Dysplasia of the Hip 1

Symptoms & Phenotypes for Developmental Dysplasia of the Hip 1

Human phenotypes related to Developmental Dysplasia of the Hip 1:

31
# Description HPO Frequency HPO Source Accession
1 congenital hip dislocation 31 HP:0001374
2 acetabular dysplasia 31 HP:0008807

Symptoms via clinical synopsis from OMIM:

56
Skeletal Pelvis:
congenital hip dislocation
positive ortolani sign

Clinical features from OMIM:

142700

Drugs & Therapeutics for Developmental Dysplasia of the Hip 1

Drugs for Developmental Dysplasia of the Hip 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 3 1197-18-8 5526
2 Hemostatics Phase 3
3 Antifibrinolytic Agents Phase 3
4 Coagulants Phase 3
5
Ropivacaine Approved 84057-95-4 71273 175805
6
Bupivacaine Approved, Investigational 38396-39-3, 2180-92-9 2474
7
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338
8
tannic acid Approved 1401-55-4
9
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
10 Anesthetics, Local
11 Pharmaceutical Solutions
12 Central Nervous System Depressants
13 Anesthetics

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 Efficacy and Satisfaction Comparing Two Braces in the Treatment of DDH in Infants: A Randomized Clinical Trial Completed NCT01375218 Phase 4
2 Use of Tranexamic Acid(TNA) in Preventing Blood Loss During and After Total Hip Arthroplasty Unknown status NCT02587845 Phase 3 Tranexamic Acid (IV);Tranexamic Acid (Topical)
3 Acetabular Labral Tear in Dysplastic Hips Unknown status NCT01345838
4 Universal Ultrasound-screening for Developmental Dysplasia of the Hip. 5-12 Years Followup of 4 200 Newborns Unknown status NCT01053299
5 Modified Triple Osteotomy for Acetabular Dysplasia - A Modified Technique for Better Femoral Head Medialization and Coverage Unknown status NCT01285154
6 Automatic Characterization of the Neonatal Hip Using Ultrasound Imaging Unknown status NCT02796768
7 Assessment of Hip, Spine and Lower Limbs Digital Radiograph Measurements in Pediatric Population: Using PACS Integrated Computer Software (TraumaCad From OrthoCrat) Unknown status NCT00782223
8 Periacetabular Osteotomy With Versus Without Adjunctive Hip Arthroscopy for Intra-Articular Pathology in Hip Dysplasia: a Prospective Randomized Trial Unknown status NCT02790749
9 Outcome After Arthroscopic Labrum Surgery in Patients Treated With Periacetabular Osteotomy Completed NCT02945995
10 A New Pelvic Osteotomy Method for Open Reduction in the Treatment of Developmental Dysplasia of the Hip in Children Completed NCT04007016
11 Selective Ultrasound Screening for Developmental Hip Dysplasia: Effect on Management and Late Detected Cases. A Prospective Survey During 1991-2006. Completed NCT01866527
12 Ultrasound Screening for Developmental Dysplasia of the Hip in the Neonate: The Effect on Treatment Rate and Prevalence of Late Cases Completed NCT01818934
13 Discovering the Gene(s) Causing Developmental Dysplasia of the Hip Completed NCT01193673
14 Incidence of Developmental Hip Dysplasia by Ultrasonographic Screening of Asymptomatic Infants Less Than 6 Months Old at Assiut University Hospital Outpatient Clinics Completed NCT03476915
15 Effect of Different Truncal Blocks Under Ultrasound-Guidance on Pain Management After Open Reduction of Pediatric Developmental Dysplasia of the Hip: a Randomized Trial Completed NCT03189966
16 Immediate Treatment Compared With Active Sonographic Surveillance in the Management of Mild Hip Dysplasia in Newborn Infants: A Randomized, Controlled Trial Completed NCT00843258
17 Predictive Factors for the Development of Osteonecrosis After the Treatment of the Developmental Dislocated Hip. A Comparison of Early Open Reduction Versus Late Open Reduction With Combined Pemberton and Femoral Osteotomies Completed NCT01133938
18 Prevalence of Hip Pathomorphology in Collegiate Athletes and Age-Matched Controls: Radiographic and Physical Exam Findings Completed NCT01799200
19 Early Abduction Splintage on Stable Hips in Infants With Developmental Dysplasia of the Hip : Improvement or Overtreatment ? Recruiting NCT02885831
20 Use of Intraoperative Contrast-Enhanced Ultrasound to Evaluate Femoral Head Perfusion in Infants With Developmental Hip Dysplasia After Surgical Reduction Recruiting NCT03107520 Early Phase 1 Lumason
21 Effectiveness of Cotton vs. Waterproof Cast Padding After Application of Hip Spica: A Randomized Controlled Study Recruiting NCT03859232
22 A Non-Inferiority Trial Assessing a Limited Ultrasound Protocol in the Treatment of Developmental Dysplasia of the Hip Recruiting NCT03608475
23 Evaluation of T1rho Magnetic Resonance Imaging for Diagnosis of Cartilage Lesions in Hips With Developmental Dysplasia Recruiting NCT02185365
24 Erector Spinae Plane Block for Congenital Hip Dislocation Surgery: Randomized Controlled Double Blind Study Recruiting NCT03949686 Saline Solution;Bupivacaine
25 A Prospective, International Hip Dysplasia Registry With Follow-up to Skeletal Maturity: An Analysis of Risk Factors, Screening Practices and Treatment Outcomes Recruiting NCT04117685
26 Investigation the Effects of Core Stabilization Training on Gait, Balance, Muscle Strength, Functions, Fear of Movement and Quality of Life in Individuals With Developmental Hip Dysplasia Recruiting NCT04006574
27 Normative Radiographic Parameters and Growth Curve of Hips Less Than Six Weeks of Gestational Age Using Ultrasound Recruiting NCT03109444
28 Arthroscopic Labral Repair Versus Physical Therapy for Tears of the Acetabular Labrum in Patients Age 40 and Older Recruiting NCT03909178
29 A Prospective Cohort Study on Targeted Exercise and Changes in Femoroacetabular Impingement in Symptomatic Patients With Acetabular Retroversion (TILT-FAI) Recruiting NCT03578562
30 Structural and Functional Sequelae of Developmental Dysplasia of the Hip Active, not recruiting NCT02431871
31 Three Novel Radiological Indicators for Diagnosis of Adult Acetabular Dysplasia: a Self-controlled, Diagnostic Trial Active, not recruiting NCT03541122
32 Hip Reconstruction in Cerebral Palsy With Pelvic Osteotomy Active, not recruiting NCT02372617
33 How Should Stable Graf Type IIc Hips be Treated With Pavlik Harness? Not yet recruiting NCT03275805
34 Evaluation of Aid to Diagnosis for Congenital Dysplasia of the Hip in General Practice: Controlled Randomised Trial Not yet recruiting NCT04101903
35 Evaluation of Closed Reduction for Treatment of Developmental Dysplasia of the Hip in Children Not yet recruiting NCT03193385
36 Periacetabular Osteotomy Versus Arthroscopic Management of Mild Hip Dysplasia: A Randomized Clinical Trial Withdrawn NCT03530878

Search NIH Clinical Center for Developmental Dysplasia of the Hip 1

Genetic Tests for Developmental Dysplasia of the Hip 1

Genetic tests related to Developmental Dysplasia of the Hip 1:

# Genetic test Affiliating Genes
1 Developmental Dysplasia of the Hip 1 29

Anatomical Context for Developmental Dysplasia of the Hip 1

MalaCards organs/tissues related to Developmental Dysplasia of the Hip 1:

40
Bone, Lung, Brain

Publications for Developmental Dysplasia of the Hip 1

Articles related to Developmental Dysplasia of the Hip 1:

(show all 22)
# Title Authors PMID Year
1
Developmental dysplasia of the hip: linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multigeneration family. 56
23716478 2013
2
Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 13q. 56
16773577 2006
3
A two-locus model for non-syndromic congenital dysplasia of the hip (CDH). 56
11246461 2000
4
Etiologic factors in congenital displacement of the hip and myelodysplasia. 56
1499231 1992
5
Natural history of congenital hip dislocation (CDH) and hip dysplasia. 56
3315382 1987
6
Congenital dislocation of the hip: a possible inborn error of collagen metabolism. 56
6429438 1984
7
Altered connective tissue in children with congenital dislocation of the hip. 56
1008597 1976
8
A family study of neonatal and late-diagnosis congenital dislocation of the hip. 56
5501696 1970
9
HEREDITARY ASPECTS OF HIP DYSPLASIA IN GERMAN SHEPHERD DOGS. 56
14176261 1964
10
Genetic and environmental factors in the etiology of congenital dislocation of the hip. 56
5889015 1964
11
PERSISTENT JOINT LAXITY AND CONGENITAL DISLOCATION OF THE HIP. 56
14126235 1964
12
Environmental influences related to the aetiology of congenital dislocation of the hip. 56
13510578 1958
13
The Fate of DDH Hips Showing Cartilaginous or Fibrous Tissue-filled Joint Spaces Following Primary Reduction. 61
26280294 2017
14
Cisplatin resistance in human cervical, ovarian and lung cancer cells. 61
25894720 2015
15
[Medium-term effectiveness of total hip arthroplasty with straight tapered rectangular femoral prosthesis]. 61
23879099 2013
16
Dihydrodiol dehydrogenases regulate the generation of reactive oxygen species and the development of cisplatin resistance in human ovarian carcinoma cells. 61
17661040 2008
17
A possible role for dihydrodiol dehydrogenase in the formation of benzo[a]pyrene-DNA adducts in lung cancer cells and tumor tissues. 61
17163506 2007
18
Expression of dihydrodiol dehydrogenase and resistance to chemotherapy and radiotherapy in adenocarcinoma cells of lung. 61
16886619 2006
19
Ubiquitous induction of resistance to platinum drugs in human ovarian, cervical, germ-cell and lung carcinoma tumor cells overexpressing isoforms 1 and 2 of dihydrodiol dehydrogenase. 61
15138708 2004
20
Reduction of dihydrodiol dehydrogenase expression in resected hepatocellular carcinoma. 61
12579257 2003
21
Genetic basis of plant height and its degree of indetermination in mungbean (Vigna radiata (L.) Wilczek). 61
12564632 2002
22
Localization of multiple human dihydrodiol dehydrogenase (DDH1 and DDH2) and chlordecone reductase (CHDR) genes in chromosome 10 by the polymerase chain reaction and fluorescence in situ hybridization. 61
7789999 1995

Variations for Developmental Dysplasia of the Hip 1

Expression for Developmental Dysplasia of the Hip 1

Search GEO for disease gene expression data for Developmental Dysplasia of the Hip 1.

Pathways for Developmental Dysplasia of the Hip 1

GO Terms for Developmental Dysplasia of the Hip 1

Sources for Developmental Dysplasia of the Hip 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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