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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
        Congenital contractural arachnodactyly
        Freeman-Sheldon syndrome
        Bone structure of L6
        Camptomelic dysplasia
        Acampomelic campomelic dysplasia
        Congenital deformities of limbs
        Arachnodactyly
        Brachydactyly
        Brachydactyly type B
        Brachydactyly type C
        Brachydactyly type D
        Brachydactyly type E
        Brachytelomesophalangy
        Type A brachydactyly
        Unilateral brachydactyly
        Congenital bowing of long bones
        Congenital deformity of lower limb
        Congenital deformity of foot
        Congenital deformity of upper limb
        Congenital deformity of hand
        Congenital vertical talus
        Congenital vertical talus, bilateral
        Congenital vertical talus, unilateral
        Ectromelia
        Amelia
        Hemimelia
        Phocomelia
        Polydactyly
        Central polydactyly of fingers
        Foot polydactyly
        Hand 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
        Craniosynostosis syndrome
        Coronal craniosynostosis
        Craniosynostosis 2
        Craniosynostosis 4
        Multiple suture craniosynostosis
        Sagittal craniosynostosis
        Squamosal suture synostosis
        TCF12-related craniosynostosis
        TWIST1-related craniosynostosis
        Crouzon syndrome
        Congenital craniofacial dysostosis
        Hallermann-Streiff syndrome
        Hypertelorism
        Mandibulofacial dysostosis
        Treacher Collins syndrome
        Holoprosencephaly sequence
        Agnathia-otocephaly complex
        Alobar holoprosencephaly
        Chromosome 1q41-q42 deletion syndrome
        Ethmocephaly
        Hartsfield-Bixler-Demyer syndrome
        Holoprosencephaly 1
        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
        Plagiocephaly
        Anterior plagiocephaly
        Posterior plagiocephaly
        Postural plagiocephaly
        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 dysplasia of the hip
        Developmental Hip Dysplasia
        Gastroschisis
        Hajdu-Cheney syndrome
        Klippel-Feil syndrome
        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
        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

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Facial keys to orthodontic diagnosis and treatment planning--Part II.

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Recent clinical studies

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Therapy

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Prognosis

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Index finger pollicization.

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Hanhart syndrome.

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Jarcho-Levin syndrome.

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Clinical prediction guides

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Ultrasonography in the Diagnosis and Management of Developmental Dysplasia of the Hip.

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Recent systematic reviews

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