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Acetabular dysplasia

MedGen UID:
233069
Concept ID:
C1328407
Anatomical Abnormality; Finding
Synonyms: Dysplasia, Hip; Dysplasias, Hip; Hip Dysplasia; Hip Dysplasias
 
HPO: HP:0008807

Definition

A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain. [from HPO]

Conditions with this feature

Mucopolysaccharidosis type 7
MedGen UID:
43108
Concept ID:
C0085132
Disease or Syndrome
Mucopolysaccharidosis type VII (MPS7) is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.
Autosomal recessive multiple pterygium syndrome
MedGen UID:
82696
Concept ID:
C0265261
Congenital Abnormality
Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types.
Developmental dysplasia of the hip 1
MedGen UID:
266288
Concept ID:
C1306065
Congenital Abnormality
Hermansky-Pudlak syndrome 2
MedGen UID:
374912
Concept ID:
C1842362
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.
Richieri Costa-Pereira syndrome
MedGen UID:
336581
Concept ID:
C1849348
Disease or Syndrome
Patients with Richieri-Costa-Pereira syndrome display a pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of the mandible, cleft palate/Robin sequence, absence of lower central incisors, minor ear anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding (summary by Favaro et al., 2011).
Familial clubfoot due to 17q23.1q23.2 microduplication
MedGen UID:
462230
Concept ID:
C3150880
Disease or Syndrome
17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.
Hereditary spastic paraplegia 47
MedGen UID:
481368
Concept ID:
C3279738
Disease or Syndrome
AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a group of neurodegenerative disorders characterized by a progressive, complex spastic paraplegia with onset typically in infancy or early childhood. Early-onset hypotonia evolves into progressive lower-extremity spasticity. The majority of children become nonambulatory and usually wheelchair bound. Over time spasticity progresses to involve the upper extremities, resulting in a spastic tetraplegia. Associated complications include dysphagia, contractures, foot deformities, dysregulation of bladder and bowel function, and a pseudobulbar affect. About 50% of affected individuals have seizures. Postnatal microcephaly (usually in the -2SD to -3SD range) is common. All have developmental delay. Speech development is significantly impaired and many affected individuals remain nonverbal. Intellectual disability in older children is usually moderate to severe.
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
MedGen UID:
816016
Concept ID:
C3809686
Mental or Behavioral Dysfunction
A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
MedGen UID:
816240
Concept ID:
C3809910
Disease or Syndrome
Arthrogryposis, impaired intellectual development, and seizures (AMRS) is an autosomal recessive disorder characterized by skeletal abnormalities, including arthrogryposis, short limbs, and vertebral malformations, impaired intellectual development, and seizures consistent with early-onset epileptic encephalopathy in some patients. Other features may include cleft palate, micrognathia, posterior embryotoxon, talipes valgus, rocker-bottom feet, and dysmorphic facies (Edmondson et al., 2017; Marini et al., 2017).
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
MedGen UID:
894399
Concept ID:
C4225285
Disease or Syndrome
Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism (KFS4) is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015). For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100).
Acrofacial dysostosis Cincinnati type
MedGen UID:
903483
Concept ID:
C4225317
Disease or Syndrome
The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).
Mucopolysaccharidosis-plus syndrome
MedGen UID:
934594
Concept ID:
C4310627
Disease or Syndrome
MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., 607016). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).
Acrofrontofacionasal dysostosis 1
MedGen UID:
1632008
Concept ID:
C4551987
Disease or Syndrome
Diamond-Blackfan anemia 20
MedGen UID:
1674961
Concept ID:
C5193022
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Combined oxidative phosphorylation deficiency 43
MedGen UID:
1718250
Concept ID:
C5394284
Disease or Syndrome
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
MedGen UID:
1803456
Concept ID:
C5676965
Disease or Syndrome
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS) is an autosomal recessive disorder characterized by global developmental delay apparent from infancy or early childhood. The severity of the disorder is highly variable. Affected individuals show impaired intellectual development and motor delay associated with either severe hypotonia or hypertonia and spasticity. Most affected individuals have skeletal defects and dysmorphic facial features. Some may have ocular or auditory problems, peripheral neuropathy, behavioral abnormalities, and nonspecific findings on brain imaging (Kurolap et al., 2022).

Professional guidelines

PubMed

Yoshitani J, Schoyer B, Shah A, Khanduja V
Int Orthop 2024 Mar;48(3):657-666. Epub 2024 Jan 10 doi: 10.1007/s00264-023-06078-0. PMID: 38195946Free PMC Article
Reiman MP, Agricola R, Kemp JL, Heerey JJ, Weir A, van Klij P, Kassarjian A, Mosler AB, Ageberg E, Hölmich P, Warholm KM, Griffin D, Mayes S, Khan KM, Crossley KM, Bizzini M, Bloom N, Casartelli NC, Diamond LE, Di Stasi S, Drew M, Friedman DJ, Freke M, Gojanovic B, Glyn-Jones S, Harris-Hayes M, Hunt MA, Impellizzeri FM, Ishøi L, Jones DM, King MG, Lawrenson PR, Leunig M, Lewis CL, Mathieu N, Moksnes H, Risberg MA, Scholes MJ, Semciw AI, Serner A, Thorborg K, Wörner T, Dijkstra HP
Br J Sports Med 2020 Jun;54(11):631-641. Epub 2020 Jan 20 doi: 10.1136/bjsports-2019-101453. PMID: 31959678
Schwend RM, Shaw BA, Segal LS
Pediatr Clin North Am 2014 Dec;61(6):1095-107. Epub 2014 Sep 18 doi: 10.1016/j.pcl.2014.08.008. PMID: 25439013

Recent clinical studies

Etiology

Kuhn AW, Clohisy JC, Troyer SC, Cheng AL, Hillen TJ, Pascual-Garrido C, Tatman J, Bloom N, Schoenecker PL, Nepple JJ
JBJS Rev 2023 Oct 1;11(10) Epub 2023 Oct 4 doi: 10.2106/JBJS.RVW.23.00041. PMID: 37793005Free PMC Article
Harris JD, Lewis BD, Park KJ
Clin Sports Med 2021 Apr;40(2):271-288. Epub 2021 Jan 19 doi: 10.1016/j.csm.2020.11.004. PMID: 33673886
Dohin B
Orthop Traumatol Surg Res 2019 Feb;105(1S):S133-S141. Epub 2018 Jul 26 doi: 10.1016/j.otsr.2018.03.018. PMID: 30056240
Mansour E, Eid R, Romanos E, Ghanem I
J Pediatr Orthop B 2017 Jul;26(4):344-349. doi: 10.1097/BPB.0000000000000358. PMID: 27379671
Carsi B, Al-Hallao S, Wahed K, Page J, Clarke NM
Acta Orthop 2014 Feb;85(1):66-70. Epub 2014 Jan 24 doi: 10.3109/17453674.2014.886030. PMID: 24460107Free PMC Article

Diagnosis

de Courtivron B, Brulefert K, Portet A, Odent T
Orthop Traumatol Surg Res 2022 Feb;108(1S):103172. Epub 2021 Dec 9 doi: 10.1016/j.otsr.2021.103172. PMID: 34896582
Nepple JJ, Fowler LM, Larson CM
Sports Med Arthrosc Rev 2021 Mar 1;29(1):15-21. doi: 10.1097/JSA.0000000000000298. PMID: 33395225
Reiman MP, Agricola R, Kemp JL, Heerey JJ, Weir A, van Klij P, Kassarjian A, Mosler AB, Ageberg E, Hölmich P, Warholm KM, Griffin D, Mayes S, Khan KM, Crossley KM, Bizzini M, Bloom N, Casartelli NC, Diamond LE, Di Stasi S, Drew M, Friedman DJ, Freke M, Gojanovic B, Glyn-Jones S, Harris-Hayes M, Hunt MA, Impellizzeri FM, Ishøi L, Jones DM, King MG, Lawrenson PR, Leunig M, Lewis CL, Mathieu N, Moksnes H, Risberg MA, Scholes MJ, Semciw AI, Serner A, Thorborg K, Wörner T, Dijkstra HP
Br J Sports Med 2020 Jun;54(11):631-641. Epub 2020 Jan 20 doi: 10.1136/bjsports-2019-101453. PMID: 31959678
Bixby SD, Millis MB
Pediatr Radiol 2019 Nov;49(12):1669-1677. Epub 2019 Nov 4 doi: 10.1007/s00247-019-04468-4. PMID: 31686172
Witt JD, Haddad FS
Bone Joint J 2017 Jun;99-B(6):705-707. doi: 10.1302/0301-620X.99B6.BJJ-2017-0491. PMID: 28566387

Therapy

Probst DT, Sookochoff MF, Harris-Hayes M, Prather H, Lipsey KL, Cheng AL
J Orthop Sports Phys Ther 2023 May;53(5):286–306. doi: 10.2519/jospt.2023.11666. PMID: 36892224Free PMC Article
Chung WK, De Vos-Jakobs S, Rivadeneira F, Bierma-Zeinstra SM, Waarsing JH
Osteoarthritis Cartilage 2021 Jan;29(1):50-58. Epub 2020 Nov 23 doi: 10.1016/j.joca.2020.09.007. PMID: 33242605
Yasunaga Y, Fujii J, Tanaka R, Yasuhara S, Yamasaki T, Adachi N, Ochi M
Clin Orthop Surg 2017 Jun;9(2):129-135. Epub 2017 May 8 doi: 10.4055/cios.2017.9.2.129. PMID: 28567213Free PMC Article
Aversano MW, Sheikh Taha AM, Mundluru S, Otsuka NY
J Pediatr Orthop 2017 Apr/May;37(3):210-216. doi: 10.1097/BPO.0000000000000675. PMID: 26523699
Carsi B, Al-Hallao S, Wahed K, Page J, Clarke NM
Acta Orthop 2014 Feb;85(1):66-70. Epub 2014 Jan 24 doi: 10.3109/17453674.2014.886030. PMID: 24460107Free PMC Article

Prognosis

Agrawal RR, Barber HF, Barnard ER, Miller AN
Injury 2024 Jul;55(7):111601. Epub 2024 May 6 doi: 10.1016/j.injury.2024.111601. PMID: 38810571
de Courtivron B, Brulefert K, Portet A, Odent T
Orthop Traumatol Surg Res 2022 Feb;108(1S):103172. Epub 2021 Dec 9 doi: 10.1016/j.otsr.2021.103172. PMID: 34896582
Reiman MP, Agricola R, Kemp JL, Heerey JJ, Weir A, van Klij P, Kassarjian A, Mosler AB, Ageberg E, Hölmich P, Warholm KM, Griffin D, Mayes S, Khan KM, Crossley KM, Bizzini M, Bloom N, Casartelli NC, Diamond LE, Di Stasi S, Drew M, Friedman DJ, Freke M, Gojanovic B, Glyn-Jones S, Harris-Hayes M, Hunt MA, Impellizzeri FM, Ishøi L, Jones DM, King MG, Lawrenson PR, Leunig M, Lewis CL, Mathieu N, Moksnes H, Risberg MA, Scholes MJ, Semciw AI, Serner A, Thorborg K, Wörner T, Dijkstra HP
Br J Sports Med 2020 Jun;54(11):631-641. Epub 2020 Jan 20 doi: 10.1136/bjsports-2019-101453. PMID: 31959678
Mansour E, Eid R, Romanos E, Ghanem I
J Pediatr Orthop B 2017 Jul;26(4):344-349. doi: 10.1097/BPB.0000000000000358. PMID: 27379671
Carsi B, Al-Hallao S, Wahed K, Page J, Clarke NM
Acta Orthop 2014 Feb;85(1):66-70. Epub 2014 Jan 24 doi: 10.3109/17453674.2014.886030. PMID: 24460107Free PMC Article

Clinical prediction guides

Agrawal RR, Barber HF, Barnard ER, Miller AN
Injury 2024 Jul;55(7):111601. Epub 2024 May 6 doi: 10.1016/j.injury.2024.111601. PMID: 38810571
Nepple JJ, Parilla FW, Pashos GE, Clohisy JC
J Bone Joint Surg Am 2023 Jan 18;105(2):137-144. Epub 2022 Nov 29 doi: 10.2106/JBJS.22.00491. PMID: 36651889
de Courtivron B, Brulefert K, Portet A, Odent T
Orthop Traumatol Surg Res 2022 Feb;108(1S):103172. Epub 2021 Dec 9 doi: 10.1016/j.otsr.2021.103172. PMID: 34896582
Mansour E, Eid R, Romanos E, Ghanem I
J Pediatr Orthop B 2017 Jul;26(4):344-349. doi: 10.1097/BPB.0000000000000358. PMID: 27379671
Carsi B, Al-Hallao S, Wahed K, Page J, Clarke NM
Acta Orthop 2014 Feb;85(1):66-70. Epub 2014 Jan 24 doi: 10.3109/17453674.2014.886030. PMID: 24460107Free PMC Article

Recent systematic reviews

Boos AM, Nagelli CV, Okoroha KR, Sierra RJ, Krych AJ, Hevesi M
Am J Sports Med 2024 Jul;52(8):2148-2158. Epub 2024 Feb 9 doi: 10.1177/03635465231197177. PMID: 38333917
Yoshitani J, Schoyer B, Shah A, Khanduja V
Int Orthop 2024 Mar;48(3):657-666. Epub 2024 Jan 10 doi: 10.1007/s00264-023-06078-0. PMID: 38195946Free PMC Article
Probst DT, Sookochoff MF, Harris-Hayes M, Prather H, Lipsey KL, Cheng AL
J Orthop Sports Phys Ther 2023 May;53(5):286–306. doi: 10.2519/jospt.2023.11666. PMID: 36892224Free PMC Article
Tan JHI, Tan SHS, Rajoo MS, Lim AKS, Hui JH
Orthop Traumatol Surg Res 2022 Jun;108(4):103283. Epub 2022 Apr 22 doi: 10.1016/j.otsr.2022.103283. PMID: 35470119
Zaltz I
J Pediatr Orthop 2013 Jul-Aug;33 Suppl 1:S21-8. doi: 10.1097/BPO.0b013e31828114af. PMID: 23764789

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