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Cervical rib

MedGen UID:
102359
Concept ID:
C0158779
Congenital Abnormality
Synonyms: Cervical rib disease; Cervical ribs
SNOMED CT: Cervical rib (72535009); Supernumerary rib in cervical region (72535009); Cervical rib (1285171005)
 
HPO: HP:0000891
Monarch Initiative: MONDO:0007303
OMIM®: 117900

Definition

Presence of rib formation in the cervical region. [from NCI]

Clinical features

From HPO
Abnormality of the nervous system
MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
An abnormality of the nervous system.
Cervical rib
MedGen UID:
102359
Concept ID:
C0158779
Congenital Abnormality
Presence of rib formation in the cervical region.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCervical rib

Conditions with this feature

Cleidocranial dysostosis
MedGen UID:
3486
Concept ID:
C0008928
Disease or Syndrome
Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and dental abnormalities) to mild CCD to isolated dental anomalies without the skeletal features. Most individuals come to diagnosis because they have classic features. At birth, affected individuals typically have abnormally large, wide-open fontanelles that may remain open throughout life. Clavicular hypoplasia can result in narrow, sloping shoulders that can be opposed at the midline. Moderate short stature may be observed, with most affected individuals being shorter than their unaffected sibs. Dental anomalies may include supernumerary teeth, eruption failure of the permanent teeth, and presence of the second permanent molar with the primary dentition. Individuals with CCD spectrum disorder are at increased risk of developing recurrent sinus infections, recurrent ear infections leading to conductive hearing loss, and upper-airway obstruction. Intelligence is typically normal.
Cervical rib
MedGen UID:
102359
Concept ID:
C0158779
Congenital Abnormality
Presence of rib formation in the cervical region.
Radial aplasia-thrombocytopenia syndrome
MedGen UID:
61235
Concept ID:
C0175703
Disease or Syndrome
Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur.
KBG syndrome
MedGen UID:
66317
Concept ID:
C0220687
Disease or Syndrome
KBG syndrome is typically characterized by macrodontia (especially of the upper central incisors), characteristic facial features (triangular face, brachycephaly, synophrys, widely spaced eyes, broad or bushy eyebrows, prominent ears, prominent nasal bridge, bulbous nose, anteverted nares, long philtrum, and thin vermilion of the upper lip), short stature, developmental delay / intellectual disability, and behavioral issues. Affected individuals may have feeding difficulties (particularly in infancy), skeletal anomalies (brachydactyly, large anterior fontanelle with delayed closure, scoliosis), hearing loss (conductive, mixed, and sensorineural), seizure disorder, and brain malformations. There is significant variability in the clinical findings, even between affected members of the same family.
Simpson-Golabi-Behmel syndrome type 1
MedGen UID:
162917
Concept ID:
C0796154
Disease or Syndrome
Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palatal abnormalities); and commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti / umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and gastrointestinal anomalies. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, hepatocellular carcinoma, and medulloblastoma.
Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction
MedGen UID:
318617
Concept ID:
C1832391
Disease or Syndrome
Becker nevus syndrome
MedGen UID:
347608
Concept ID:
C1858042
Disease or Syndrome
Becker nevus (BN) is a cutaneous hamartoma affecting approximately 1 in 200 individuals that appears in childhood as a unilateral tan patch, and increases in thickness, pigmentation, and hair growth during adolescence. Histologically, epidermal acanthosis is accompanied by irregularly dispersed ectopic smooth muscle bundles and increased terminal hair follicles (summary by Cai et al., 2017). Becker nevus syndrome (BNS) is a phenotype characterized by the presence of a Becker nevus in association with unilateral hypoplasia of breast or other cutaneous, muscular, or skeletal defects (Happle and Koopman, 1997).
Short stature and Facioauriculothoracic malformations
MedGen UID:
351216
Concept ID:
C1864791
Disease or Syndrome
Acroosteolysis-keloid-like lesions-premature aging syndrome
MedGen UID:
400936
Concept ID:
C1866182
Disease or Syndrome
Penttinen syndrome (PENTT) is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis (Johnston et al., 2015).
Goldenhar syndrome
MedGen UID:
501171
Concept ID:
C3495417
Congenital Abnormality
Craniofacial microsomia-1 (CFM1) is an autosomal dominant disorder characterized by mandibular hypoplasia, microtia, facial and preauricular skin tags, epibulbar dermoids, and lateral oral clefts, in addition to skeletal and cardiac abnormalities. Inter- and intrafamilial variability has been observed (Timberlake et al., 2021). Hemifacial microsomia is a common birth defect involving the first and second branchial arch derivatives. It typically affects the external ear, middle ear, mandible and temporomandibular joint, muscles of mastication and facial muscles, and other facial soft tissues on the affected side. In some cases, other facial structures, such as the orbit, eye, nose, cranium, or neck, may be involved. Involvement is usually limited to one side, but bilateral involvement is known. In addition to craniofacial anomalies, there may be cardiac, vertebral, and central nervous system defects. The phenotype is highly variable. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance (summary by Poole, 1989 and Hennekam et al., 2010). Genetic Heterogeneity of Craniofacial Microsomia CFM2 (620444) is caused by mutation in the FOXI3 gene (612351) on chromosome 2p11. See also hemifacial microsomia with radial defects (141400) and oculoauriculofrontonasal dysplasia (OAFNS; 601452), which may be part of the OAV spectrum. Another disorder that overlaps clinically with CFM is Townes-Brocks syndrome (TBS; 107480). Reviews Ronde et al. (2023) reviewed the international classification and clinical management strategies for craniofacial microsomia and microtia, and tabulated survey responses from 57 professionals involved in management of CFM patients. The authors noted that although the International Consortium for Health Outcomes Measurement (ICHOM) criteria for CFM exclude isolated microtia from the phenotypic spectrum of CFM, the question of whether isolated microtia can be considered the mildest form of CFM is debated in the literature. No consensus was reached in their survey, as a majority of respondents agreed with the ICHOM criteria but also considered isolated microtia to be a mild form of CFM. In addition, the authors noted that although vertebral, cardiac, and renal anomalies have been reported in CFM patients, there was no consensus on screening for such extracraniofacial anomalies.
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
MedGen UID:
860891
Concept ID:
C4012454
Congenital Abnormality
A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).
ZTTK syndrome
MedGen UID:
934663
Concept ID:
C4310696
Disease or Syndrome
ZTTK syndrome (ZTTKS) is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).
KINSSHIP syndrome
MedGen UID:
1779339
Concept ID:
C5543317
Disease or Syndrome
KINSSHIP syndrome (KINS) is an autosomal dominant disorder characterized by a recognizable pattern of anomalies including developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive (summary by Voisin et al., 2021).
Orofaciodigital syndrome 18
MedGen UID:
1799326
Concept ID:
C5567903
Disease or Syndrome
Orofaciodigital syndrome-18 is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features (Thevenon et al., 2016).

Professional guidelines

PubMed

Cavanna AC, Giovanis A, Daley A, Feminella R, Chipman R, Onyeukwu V
J Osteopath Med 2022 Nov 1;122(11):587-599. Epub 2022 Aug 29 doi: 10.1515/jom-2021-0276. PMID: 36018621
Matos JM, Gonzalez L, Kfoury E, Echeverria A, Bechara CF, Lin PH
Vascular 2018 Aug;26(4):410-417. Epub 2018 Jan 4 doi: 10.1177/1708538117747628. PMID: 29301465
Vemuri C, McLaughlin LN, Abuirqeba AA, Thompson RW
J Vasc Surg 2017 May;65(5):1429-1439. Epub 2017 Feb 8 doi: 10.1016/j.jvs.2016.11.039. PMID: 28189360

Recent clinical studies

Etiology

Masocatto NO, Da-Matta T, Prozzo TG, Couto WJ, Porfirio G
Rev Col Bras Cir 2019;46(5):e20192243. Epub 2019 Dec 20 doi: 10.1590/0100-6991e-20192243. PMID: 31859722
Henry BM, Vikse J, Sanna B, Taterra D, Gomulska M, Pękala PA, Tubbs RS, Tomaszewski KA
World Neurosurg 2018 Feb;110:e965-e978. Epub 2017 Dec 2 doi: 10.1016/j.wneu.2017.11.148. PMID: 29203316
Correia M, Antunes L, Gonçalves Ó
Rev Port Cir Cardiotorac Vasc 2017 Jul-Dec;24(3-4):152. PMID: 29701383
Abdel Ghany W, Nada MA, Toubar AF, Desoky AE, Ibrahim H, Nassef MA, Mahran MG
World Neurosurg 2017 Feb;98:124-131. Epub 2016 Oct 28 doi: 10.1016/j.wneu.2016.10.113. PMID: 27989967
Spadliński Ł, Cecot T, Majos A, Stefańczyk L, Pietruszewska W, Wysiadecki G, Topol M, Polguj M
Biomed Res Int 2016;2016:8034613. Epub 2016 Nov 15 doi: 10.1155/2016/8034613. PMID: 27975060Free PMC Article

Diagnosis

Cavanna AC, Giovanis A, Daley A, Feminella R, Chipman R, Onyeukwu V
J Osteopath Med 2022 Nov 1;122(11):587-599. Epub 2022 Aug 29 doi: 10.1515/jom-2021-0276. PMID: 36018621
Panther EJ, Reintgen CD, Cueto RJ, Hao KA, Chim H, King JJ
J Shoulder Elbow Surg 2022 Nov;31(11):e545-e561. Epub 2022 Aug 10 doi: 10.1016/j.jse.2022.06.026. PMID: 35963513
Masocatto NO, Da-Matta T, Prozzo TG, Couto WJ, Porfirio G
Rev Col Bras Cir 2019;46(5):e20192243. Epub 2019 Dec 20 doi: 10.1590/0100-6991e-20192243. PMID: 31859722
Correia M, Antunes L, Gonçalves Ó
Rev Port Cir Cardiotorac Vasc 2017 Jul-Dec;24(3-4):152. PMID: 29701383
Sanders RJ, Hammond SL, Rao NM
J Vasc Surg 2007 Sep;46(3):601-4. doi: 10.1016/j.jvs.2007.04.050. PMID: 17826254

Therapy

Martinez Del Carmen DT, Martí Mestre FX, Tripodi P, Macia Vidueira I, Ramos Izquierdo R, Romera Villegas A
Ann Vasc Surg 2022 Apr;81:225-231. Epub 2021 Nov 11 doi: 10.1016/j.avsg.2021.09.032. PMID: 34775010
Jayaraj A, Duncan AA, Kalra M, Bower TC, Gloviczki P
Ann Vasc Surg 2018 Aug;51:147-149. Epub 2018 May 15 doi: 10.1016/j.avsg.2018.02.029. PMID: 29772332
Povlsen B, Hansson T, Povlsen SD
Cochrane Database Syst Rev 2014 Nov 26;(11):CD007218. doi: 10.1002/14651858.CD007218.pub3. PMID: 25427003
Povlsen B, Belzberg A, Hansson T, Dorsi M
Cochrane Database Syst Rev 2010 Jan 20;(1):CD007218. doi: 10.1002/14651858.CD007218.pub2. PMID: 20091624
Erken E, Ozer HT, Gulek B, Durgun B
Spine (Phila Pa 1976) 2002 Aug 1;27(15):1659-64. doi: 10.1097/00007632-200208010-00013. PMID: 12163729

Prognosis

Schut PC, Cohen-Overbeek TE, Galis F, Ten Broek CM, Steegers EA, Eggink AJ
Obstet Gynecol Surv 2016 Dec;71(12):741-750. doi: 10.1097/OGX.0000000000000388. PMID: 28005137
Spadliński Ł, Cecot T, Majos A, Stefańczyk L, Pietruszewska W, Wysiadecki G, Topol M, Polguj M
Biomed Res Int 2016;2016:8034613. Epub 2016 Nov 15 doi: 10.1155/2016/8034613. PMID: 27975060Free PMC Article
Klaassen Z, Sorenson E, Tubbs RS, Arya R, Meloy P, Shah R, Shirk S, Loukas M
Clin Anat 2014 Jul;27(5):724-32. Epub 2013 May 29 doi: 10.1002/ca.22271. PMID: 23716186
Tague RG
Clin Anat 2011 Mar;24(2):209-17. Epub 2010 Nov 10 doi: 10.1002/ca.21087. PMID: 21322043
Sellke FW, Kelly TR
Am J Surg 1988 Jul;156(1):54-7. doi: 10.1016/s0002-9610(88)80172-7. PMID: 3394894

Clinical prediction guides

Martinez Del Carmen DT, Martí Mestre FX, Tripodi P, Macia Vidueira I, Ramos Izquierdo R, Romera Villegas A
Ann Vasc Surg 2022 Apr;81:225-231. Epub 2021 Nov 11 doi: 10.1016/j.avsg.2021.09.032. PMID: 34775010
Vemuri C, McLaughlin LN, Abuirqeba AA, Thompson RW
J Vasc Surg 2017 May;65(5):1429-1439. Epub 2017 Feb 8 doi: 10.1016/j.jvs.2016.11.039. PMID: 28189360
Schut PC, Cohen-Overbeek TE, Galis F, Ten Broek CM, Steegers EA, Eggink AJ
Obstet Gynecol Surv 2016 Dec;71(12):741-750. doi: 10.1097/OGX.0000000000000388. PMID: 28005137
Tague RG
Clin Anat 2011 Mar;24(2):209-17. Epub 2010 Nov 10 doi: 10.1002/ca.21087. PMID: 21322043
Brooke BS, Freischlag JA
Curr Opin Cardiol 2010 Nov;25(6):535-40. doi: 10.1097/HCO.0b013e32833f028e. PMID: 20838336

Recent systematic reviews

Yin ZG, Gong KT, Zhang JB
J Hand Surg Am 2019 May;44(5):416.e1-416.e17. Epub 2018 Aug 16 doi: 10.1016/j.jhsa.2018.06.120. PMID: 30122304
Schut PC, Cohen-Overbeek TE, Galis F, Ten Broek CM, Steegers EA, Eggink AJ
Obstet Gynecol Surv 2016 Dec;71(12):741-750. doi: 10.1097/OGX.0000000000000388. PMID: 28005137
Povlsen B, Hansson T, Povlsen SD
Cochrane Database Syst Rev 2014 Nov 26;(11):CD007218. doi: 10.1002/14651858.CD007218.pub3. PMID: 25427003
Povlsen B, Belzberg A, Hansson T, Dorsi M
Cochrane Database Syst Rev 2010 Jan 20;(1):CD007218. doi: 10.1002/14651858.CD007218.pub2. PMID: 20091624

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