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Caudal Dysplasia

MedGen UID:
900065
•Concept ID:
C4086146
•
Congenital Abnormality

Definition

A congenital abnormality characterized by the abnormal development of the lower portion of the body. Findings include hypoplastic lower extremities, defects of the caudal vertebrae, sacrum and neural tube, or maldeveloped gastrointestinal or genital organs. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCaudal Dysplasia

Professional guidelines

PubMed

Advances in Hirschsprung disease genetics and treatment strategies: an update for the primary care pediatrician.
Burkardt DD, Graham JM Jr, Short SS, Frykman PK
Clin Pediatr (Phila) 2014 Jan;53(1):71-81. Epub 2013 Sep 3 doi: 10.1177/0009922813500846. PMID: 24002048
Skeletal development of achondroplasia: analysis of genotyped patients.
Matsui Y, Kawabata H, Ozono K, Yasui N
Pediatr Int 2001 Aug;43(4):361-3. doi: 10.1046/j.1442-200x.2001.01416.x. PMID: 11472579
Anorectal atresia: prenatal sonographic diagnosis.
Harris RD, Nyberg DA, Mack LA, Weinberger E
AJR Am J Roentgenol 1987 Aug;149(2):395-400. doi: 10.2214/ajr.149.2.395. PMID: 3300224

Recent clinical studies

Etiology

Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother.
Dentici ML, Placidi S, Francalanci P, Capolino R, Rinelli G, Marino B, Digilio MC, Dallapiccola B
Cardiol Young 2013 Feb;23(1):14-7. Epub 2012 Mar 6 doi: 10.1017/S1047951112000194. PMID: 22391434
Is there a reduction of congenital abnormalities in the offspring of diabetic pregnant women after folic acid supplementation? A population-based case-control study.
Bánhidy F, Dakhlaoui A, Puhó EH, Czeizel AA
Congenit Anom (Kyoto) 2011 Jun;51(2):80-6. doi: 10.1111/j.1741-4520.2010.00302.x. PMID: 21039913
Caudal dysplasia sequence: severe phenotype presenting in offspring of patients with gestational and pregestational diabetes.
Versiani BR, Gilbert-Barness E, Giuliani LR, Peres LC, Pina-Neto JM
Clin Dysmorphol 2004 Jan;13(1):1-5. doi: 10.1097/00019605-200401000-00001. PMID: 15127755
Cryptorchidism as a caudal developmental field defect. A new description of cryptorchidism associated with malformations and dysplasias of the kidneys, the ureters and the spine from T10 to S5.
Cortes D, Thorup JM, Beck BL, Visfeldt J
APMIS 1998 Oct;106(10):953-8. PMID: 9833697
Urodynamic evaluation of children with the caudal regression syndrome (caudal dysplasia sequence).
Boemers TM, van Gool JD, de Jong TP, Bax KM
J Urol 1994 Apr;151(4):1038-40. doi: 10.1016/s0022-5347(17)35171-6. PMID: 8126785

Diagnosis

Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes.
Palacios-Marqués A, Oliver C, Martín-Bayón T, Martinez-Escoriza JC
BMJ Case Rep 2013 Jun 3;2013 doi: 10.1136/bcr-2013-009043. PMID: 23737573Free PMC Article
Caudal dysplasia, femoral hypoplasia-unusual facies syndrome and absent radius: a new association in infant of diabetic mother?
Gupta P, Khatri PC, Agarwal R, Gupta P
Indian J Pediatr 2012 Nov;79(11):1517-9. Epub 2012 Mar 1 doi: 10.1007/s12098-011-0650-3. PMID: 22382510
Recognition of caudal regression syndrome.
Boulas MM
Adv Neonatal Care 2009 Apr;9(2):61-9; quiz 70-1. doi: 10.1097/ANC.0b013e31819de44f. PMID: 19363325
Alagille syndrome associated with caudal dysplasia sequence.
Rodríguez JI, Rivera T, Palacios J
Am J Med Genet 1991 Jul 1;40(1):61-4. doi: 10.1002/ajmg.1320400112. PMID: 1887851
The syndrome of caudal dysplasia: a review, including etiologic considerations and evidence of heterogeneity.
Welch JP, Aterman K
Pediatr Pathol 1984;2(3):313-27. doi: 10.3109/15513818409022263. PMID: 6393099

Therapy

Is there a reduction of congenital abnormalities in the offspring of diabetic pregnant women after folic acid supplementation? A population-based case-control study.
Bánhidy F, Dakhlaoui A, Puhó EH, Czeizel AA
Congenit Anom (Kyoto) 2011 Jun;51(2):80-6. doi: 10.1111/j.1741-4520.2010.00302.x. PMID: 21039913
Prune perineum syndrome: report of a second case.
Williams DA, Weiss T, Wade E, Dignan P
Teratology 1983 Aug;28(1):145-8. doi: 10.1002/tera.1420280117. PMID: 6685352
Syndrome of phocomelic diabetic embryopathy (caudal dysplasia).
Assemany SR, Muzzo S, Gardner LI
Am J Dis Child 1972 May;123(5):489-91. doi: 10.1001/archpedi.1972.02110110117014. PMID: 5026223

Prognosis

Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes.
Palacios-Marqués A, Oliver C, Martín-Bayón T, Martinez-Escoriza JC
BMJ Case Rep 2013 Jun 3;2013 doi: 10.1136/bcr-2013-009043. PMID: 23737573Free PMC Article
Caudal dysplasia sequence with penile enlargement: case report and a potential pathogenic hypothesis.
Makhoul IR, Aviram-Goldring A, Paperna T, Sujov P, Rienstein S, Smolkin T, Epelman M, Gershoni-Baruch R
Am J Med Genet 2001 Feb 15;99(1):54-8. doi: 10.1002/1096-8628(20010215)99:1<54::aid-ajmg1124>3.0.co;2-f. PMID: 11170094

Clinical prediction guides

Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother.
Dentici ML, Placidi S, Francalanci P, Capolino R, Rinelli G, Marino B, Digilio MC, Dallapiccola B
Cardiol Young 2013 Feb;23(1):14-7. Epub 2012 Mar 6 doi: 10.1017/S1047951112000194. PMID: 22391434
Cryptorchidism as a caudal developmental field defect. A new description of cryptorchidism associated with malformations and dysplasias of the kidneys, the ureters and the spine from T10 to S5.
Cortes D, Thorup JM, Beck BL, Visfeldt J
APMIS 1998 Oct;106(10):953-8. PMID: 9833697
Molecular and clinical studies of three cases of female pseudohermaphroditism with caudal dysplasia suggest multiple etiologies.
Erickson RP, Stone JF, McNoe LA, Eccles MR
Clin Genet 1997 May;51(5):331-7. doi: 10.1111/j.1399-0004.1997.tb02483.x. PMID: 9212182
Urodynamic evaluation of children with the caudal regression syndrome (caudal dysplasia sequence).
Boemers TM, van Gool JD, de Jong TP, Bax KM
J Urol 1994 Apr;151(4):1038-40. doi: 10.1016/s0022-5347(17)35171-6. PMID: 8126785

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