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Congenital anomaly of musculoskeletal system

MedGen UID:: 57466
•Concept ID:: C0151491
•: Congenital Abnormality

Synonyms:	Abnormalities, Musculoskeletal; Abnormality, Musculoskeletal; Musculoskeletal Abnormalities; Musculoskeletal Abnormality
SNOMED CT:	Congenital anomaly of musculoskeletal system (73573004); Congenital deformity of musculoskeletal system (73573004); Congenital musculoskeletal abnormality (73573004); Congenital malformation and deformation of the musculoskeletal system (73573004); Congenital abnormality of musculoskeletal system (73573004); Congenital malformation of musculoskeletal system (73573004)

Definition

An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital anomaly of musculoskeletal system

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Congenital anomaly of musculoskeletal system
        Arterial thoracic outlet syndrome due to cervical rib
        Arthrogryposis multiplex congenita
        Adducted thumbs-arthrogryposis syndrome, Christian type
        Alkuraya-Kucinskas syndrome
        Arthrogryposis multiplex congenita 2, neurogenic type
        Arthrogryposis multiplex congenita-whistling face syndrome
        Arthrogryposis with renal dysfunction and cholestasis syndrome
        Arthrogryposis-hyperkeratosis syndrome, lethal form
        Arthrogryposis-like syndrome
        Autosomal recessive myogenic arthrogryposis multiplex congenita
        Compton-North congenital myopathy
        Congenital contractural arachnodactyly
        Fetal akinesia deformation sequence 1
        Freeman-Sheldon syndrome
        Hypomyelination neuropathy-arthrogryposis syndrome
        Infantile-onset X-linked spinal muscular atrophy
        Lethal arthrogryposis-anterior horn cell disease syndrome
        Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
        Marden-Walker syndrome
        Microphthalmia microtia fetal akinesia
        Multiple pterygium-malignant hyperthermia syndrome
        MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
        Pontocerebellar hypoplasia, type 12
        Prenatal-onset spinal muscular atrophy with congenital bone fractures
        Van den Ende-Gupta syndrome
        Wieacker-Wolff syndrome
        Bone structure of L6
        Camptomelic dysplasia
        Acampomelic campomelic dysplasia
        Cervical C2/C3 vertebral fusion
        Isolated Klippel-Feil syndrome
        Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
        Klippel-Feil syndrome 1, autosomal dominant
        Klippel-Feil syndrome 2, autosomal recessive
        Klippel-Feil syndrome 3, autosomal dominant
        Congenital anomaly of limb
        Arachnodactyly
        Brachydactyly
        Brachydactyly syndrome type B
        Brachydactyly type C
        Brachydactyly type D
        Brachydactyly type E
        Brachytelomesophalangy
        Type A brachydactyly
        Unilateral brachydactyly
        Congenital deformity of lower limb
        Congenital deformity of foot
        Congenital deformity of upper limb
        Congenital deformity of hand
        Ectromelia
        Amelia
        Hemimelia
        Phocomelia
        Polydactyly
        Foot polydactyly
        Hand polydactyly
        Mesoaxial polydactyly
        Mirror image polydactyly
        Pallister-Hall syndrome
        Postaxial polydactyly
        Preaxial polydactyly
        Short rib-polydactyly syndrome
        Proteus syndrome
        Syndactyly
        Acrocephalosyndactyly
        Cryptophthalmos syndrome
        Cutaneous syndactyly
        Finger syndactyly
        Non-syndromic syndactyly
        Poland anomaly
        Thanatophoric dysplasia
        Thanatophoric dysplasia type 1
        Thanatophoric dysplasia, Glasgow variant
        Thanatophoric dysplasia, type 2
        Congenital laryngomalacia
        Congenital pectus excavatum
        Craniofacial Abnormalities
        22q11 Deletion Syndrome
        DiGeorge syndrome
        Cleidocranial dysostosis
        Costello syndrome
        Craniofacial dysostosis
        Congenital craniofacial dysostosis
        Hallermann-Streiff syndrome
        Hypertelorism
        Mandibulofacial dysostosis
        Treacher Collins syndrome
        Craniosynostosis syndrome
        Coronal craniosynostosis
        Craniosynostosis 2
        Lambdoidal craniosynostosis
        Multiple suture craniosynostosis
        Sagittal craniosynostosis
        TCF12-related craniosynostosis
        TWIST1-related craniosynostosis
        Holoprosencephaly sequence
        Agnathia-otocephaly complex
        Alobar holoprosencephaly
        Chromosome 1q41-q42 deletion syndrome
        Cyclopia
        Ethmocephaly
        Hartsfield-Bixler-Demyer syndrome
        Holoprosencephaly 2
        Holoprosencephaly 3
        Holoprosencephaly 4
        Holoprosencephaly 5
        Holoprosencephaly 6
        Holoprosencephaly 7
        Holoprosencephaly 8
        Holoprosencephaly 9
        Holoprosencephaly caudal dysgenesis
        Holoprosencephaly deletion 2p
        Holoprosencephaly ectrodactyly cleft lip palate
        Holoprosencephaly radial heart renal anomalies
        Holoprosencephaly, recurrent infections, and monocytosis
        Holoprosencephaly-craniosynostosis syndrome
        Holoprosencephaly-hypokinesia-congenital contractures syndrome
        Holoprosencephaly-postaxial polydactyly syndrome
        Lambotte syndrome
        Lobar holoprosencephaly
        Midline interhemispheric variant of holoprosencephaly
        NODAL-Related Holoprosencephaly
        Semilobar holoprosencephaly
        Septopreoptic holoprosencephaly
        Syntelencephaly
        Isolated congenital microcephaly
        Autosomal dominant primary microcephaly
        Autosomal recessive primary microcephaly
        Porencephaly
        Primary microcephaly
        Leprechaunism syndrome
        Loeys-Dietz syndrome
        Aneurysm-osteoarthritis syndrome
        Loeys-Dietz syndrome 1
        Loeys-Dietz syndrome 2
        Loeys-Dietz syndrome 4
        Loeys-Dietz Syndrome Type 1
        Maxillofacial Abnormalities
        Dentofacial Deformities
        Fibrous dysplasia of jaw
        Jaw Abnormalities
        Megalencephaly
        Acquired Macrocephaly
        Dysplastic megalencephaly
        Hemimegalencephaly
        Isolated megalencephaly
        Macrocephaly at birth
        Noonan syndrome
        Noonan syndrome 1
        Noonan syndrome 2
        Noonan syndrome 3
        Noonan syndrome 4
        Noonan syndrome 5
        Noonan syndrome 6
        Noonan syndrome 7
        Noonan syndrome 8
        Noonan syndrome 9
        Noonan syndrome 10
        Noonan syndrome 11
        Noonan syndrome 12
        Noonan syndrome 13
        Noonan syndrome with multiple lentigines
        LEOPARD syndrome 1
        LEOPARD syndrome 2
        LEOPARD syndrome 3
        Orofaciodigital syndrome
        Mohr syndrome
        Oral-facial-digital syndrome with short stature and brachymesophalangy
        Orofacial-digital syndrome III
        Orofacial-digital syndrome IV
        Orofaciodigital syndrome I
        Orofaciodigital syndrome IX
        Orofaciodigital syndrome type 6
        Orofaciodigital syndrome type 12
        Orofaciodigital syndrome type 13
        Orofaciodigital syndrome type 14
        Orofaciodigital syndrome V
        Orofaciodigital syndrome VIII
        Orofaciodigital syndrome X
        Orofaciodigital syndrome XI
        Platybasia
        Rubinstein-Taybi syndrome
        Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
        Rubinstein-Taybi syndrome due to CREBBP mutations
        Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
        Russell-Silver syndrome
        Silver-Russell syndrome 1
        Silver-russell syndrome 2
        Silver-Russell syndrome 3
        Silver-russell syndrome 4
        Silver-Russell syndrome 5
        Silver-Russell syndrome due to 11p15 microduplication
        Silver-Russell syndrome due to 7p11.2p13 microduplication
        Silver-Russell syndrome due to a point mutation
        Silver-Russell syndrome due to an imprinting defect of 11p15
        Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
        Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
        Developmental Hip Dysplasia
        Hip dysplasia
        Gastroschisis
        Hajdu-Cheney syndrome
        Pectus carinatum
        Superior pectus carinatum
        Synostosis
        Antley-Bixler Syndrome Phenotype
        Tarsal synostosis
        Calcaneonavicular fusion
        Coalescence of tarsal bones
        Partial fusion of tarsals
        Talocalcaneal synostosis
        Tarsometatarsal synostosis
        Tracheobronchomalacia
        Bronchomalacia
        Cartilaginous tracheobronchomalacia
        Excessive dynamic airway collapse
        Tracheomalacia
        Laryngotracheomalacia

Professional guidelines

PubMed

Treacher Collins Syndrome: Genetics, Clinical Features and Management.

Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374 Free PMC Article

Noonan syndrome: clinical features, diagnosis, and management guidelines.

Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA
Pediatrics 2010 Oct;126(4):746-59. Epub 2010 Sep 27 doi: 10.1542/peds.2009-3207. PMID: 20876176

Central post-stroke pain: clinical characteristics, pathophysiology, and management.

Klit H, Finnerup NB, Jensen TS
Lancet Neurol 2009 Sep;8(9):857-68. doi: 10.1016/S1474-4422(09)70176-0. PMID: 19679277

See all (3364)

Recent clinical studies

Etiology

Positional Plagiocephaly and Craniosynostosis.

Santiago GS, Santiago CN, Chwa ES, Purnell CA
Pediatr Ann 2023 Jan;52(1):e10-e17. Epub 2023 Jan 1 doi: 10.3928/19382359-20221114-03. PMID: 36625797

Craniosynostosis: Neonatal Perspectives.

Bautista G
Neoreviews 2021 Apr;22(4):e250-e257. doi: 10.1542/neo.22-4-e250. PMID: 33795400

Laryngomalacia, Tracheomalacia and Bronchomalacia.

Hysinger EB
Curr Probl Pediatr Adolesc Health Care 2018 Apr;48(4):113-118. Epub 2018 Apr 3 doi: 10.1016/j.cppeds.2018.03.002. PMID: 29622320

Expanding the phenome and variome of skeletal dysplasia.

Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS
Genet Med 2018 Dec;20(12):1609-1616. Epub 2018 Apr 5 doi: 10.1038/gim.2018.50. PMID: 29620724

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.

Weston J, Bromley R, Jackson CF, Adab N, Clayton-Smith J, Greenhalgh J, Hounsome J, McKay AJ, Tudur Smith C, Marson AG
Cochrane Database Syst Rev 2016 Nov 7;11(11):CD010224. doi: 10.1002/14651858.CD010224.pub2. PMID: 27819746 Free PMC Article

See all (27679)

Diagnosis

Capillary Malformations.

Escobar K, Pandher K, Jahnke MN
Dermatol Clin 2022 Oct;40(4):425-433. Epub 2022 Sep 16 doi: 10.1016/j.det.2022.06.005. PMID: 36243429

Congenital Deformities of the Hands.

Chu A, Chan J, Baxi O
Pediatr Clin North Am 2020 Feb;67(1):85-99. doi: 10.1016/j.pcl.2019.09.011. PMID: 31779839

Pseudoacromegaly.

Marques P, Korbonits M
Front Neuroendocrinol 2019 Jan;52:113-143. Epub 2018 Nov 15 doi: 10.1016/j.yfrne.2018.11.001. PMID: 30448536

Expanding the phenome and variome of skeletal dysplasia.

Marfan Syndrome: A Clinical Update.

Bitterman AD, Sponseller PD
J Am Acad Orthop Surg 2017 Sep;25(9):603-609. doi: 10.5435/JAAOS-D-16-00143. PMID: 28837453

See all (24472)

Therapy

Interventions for congenital talipes equinovarus (clubfoot).

Bina S, Pacey V, Barnes EH, Burns J, Gray K
Cochrane Database Syst Rev 2020 May 15;5(5):CD008602. doi: 10.1002/14651858.CD008602.pub4. PMID: 32412098 Free PMC Article

State-of-the-Art Hypertelorism Management.

Shakir S, Hoppe IC, Taylor JA
Clin Plast Surg 2019 Apr;46(2):185-195. Epub 2019 Jan 9 doi: 10.1016/j.cps.2018.11.004. PMID: 30851750

Effects of selective strengthening of tibialis posterior and stretching of iliopsoas on navicular drop, dynamic balance, and lower limb muscle activity in pronated feet: A randomized clinical trial.

Alam F, Raza S, Moiz JA, Bhati P, Anwer S, Alghadir A
Phys Sportsmed 2019 Sep;47(3):301-311. Epub 2018 Dec 5 doi: 10.1080/00913847.2018.1553466. PMID: 30517043

Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G
Nature 2018 Jun;558(7711):540-546. Epub 2018 Jun 13 doi: 10.1038/s41586-018-0217-9. PMID: 29899452 Free PMC Article

Diagnosis and management of Silver-Russell syndrome: first international consensus statement.

Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961

See all (8066)

Prognosis

Incidence of Neonatal Developmental Dysplasia of the Hip and Late Detection Rates Based on Screening Strategy: A Systematic Review and Meta-analysis.

Kuitunen I, Uimonen MM, Haapanen M, Sund R, Helenius I, Ponkilainen VT
JAMA Netw Open 2022 Aug 1;5(8):e2227638. doi: 10.1001/jamanetworkopen.2022.27638. PMID: 35980635 Free PMC Article

Imaging of Congenital Skeletal Disorders.

Aparisi Gómez MP, Trisolino G, Sangiorgi L, Guglielmi G, Bazzocchi A
Semin Musculoskelet Radiol 2021 Feb;25(1):22-38. Epub 2021 May 21 doi: 10.1055/s-0041-1723964. PMID: 34020466

Orthopedic issues in vascular anomalies.

Spencer SA, Sorger JI
Semin Pediatr Surg 2020 Oct;29(5):150973. Epub 2020 Sep 19 doi: 10.1016/j.sempedsurg.2020.150973. PMID: 33069292

Forefoot malformations, deformities and other congenital defects in children.

Rampal V, Giuliano F
Orthop Traumatol Surg Res 2020 Feb;106(1S):S115-S123. Epub 2019 Oct 21 doi: 10.1016/j.otsr.2019.03.021. PMID: 31648997

Yunis-Varon Syndrome.

Siddique AW, Ahmed Z, Haider A, Khalid H, Karim T
J Ayub Med Coll Abbottabad 2019 Apr-Jun;31(2):290-292. PMID: 31094135

See all (13617)

Clinical prediction guides

Paediatric hip ultrasound.

Donnan M, Anderson N, Hoq M, Donnan L
Bone Joint J 2023 Oct 1;105-B(10):1123-1130. doi: 10.1302/0301-620X.105B10.BJJ-2023-0143.R1. PMID: 37777201

Physical therapy and migraine: musculoskeletal and balance dysfunctions and their relevance for clinical practice.

Carvalho GF, Schwarz A, Szikszay TM, Adamczyk WM, Bevilaqua-Grossi D, Luedtke K
Braz J Phys Ther 2020 Jul-Aug;24(4):306-317. Epub 2019 Nov 29 doi: 10.1016/j.bjpt.2019.11.001. PMID: 31813696 Free PMC Article

Genetics of patella hypoplasia/agenesis.

Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497

Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies.

Boer LL, Morava E, Klein WM, Schepens-Franke AN, Oostra RJ
Birth Defects Res 2017 Jun 1;109(10):791-804. Epub 2017 May 16 doi: 10.1002/bdr2.1049. PMID: 28509418

Prader-Willi Syndrome: A spectrum of anatomical and clinical features.

Hurren BJ, Flack NA
Clin Anat 2016 Jul;29(5):590-605. Epub 2016 Jan 29 doi: 10.1002/ca.22686. PMID: 26749552

See all (15515)

Recent systematic reviews

Risk Factors of Flatfoot in Children: A Systematic Review and Meta-Analysis.

Xu L, Gu H, Zhang Y, Sun T, Yu J
Int J Environ Res Public Health 2022 Jul 6;19(14) doi: 10.3390/ijerph19148247. PMID: 35886097 Free PMC Article

Clinical features and complications of Loeys-Dietz syndrome: A systematic review.

Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564

Evidence for foot orthoses for adults with flatfoot: a systematic review.

Herchenröder M, Wilfling D, Steinhäuser J
J Foot Ankle Res 2021 Nov 29;14(1):57. doi: 10.1186/s13047-021-00499-z. PMID: 34844639 Free PMC Article

The effectiveness and safety of conservative interventions for positional plagiocephaly and congenital muscular torticollis: a synthesis of systematic reviews and guidance.

Ellwood J, Draper-Rodi J, Carnes D
Chiropr Man Therap 2020 Jun 11;28(1):31. doi: 10.1186/s12998-020-00321-w. PMID: 32522230 Free PMC Article

Paediatric flexible flat foot: how are we measuring it and are we getting it right? A systematic review.

Banwell HA, Paris ME, Mackintosh S, Williams CM
J Foot Ankle Res 2018;11:21. Epub 2018 May 30 doi: 10.1186/s13047-018-0264-3. PMID: 29854006 Free PMC Article

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