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Sacral lipoma

MedGen UID:
867458
Concept ID:
C4021835
Neoplastic Process
HPO: HP:0012033

Definition

Presence of a lipoma in the region of the sacrum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSacral lipoma

Conditions with this feature

Sacral defect with anterior meningocele
MedGen UID:
325455
Concept ID:
C1838568
Disease or Syndrome
Sacral defect with anterior meningocele (SDAM) is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant (Chatkupt et al., 1994). Welch and Aterman (1984) gave a population frequency of 0.14%. Caudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. Approximately 15 to 25% of mothers of children with caudal dysgenesis have insulin-dependent diabetes mellitus (222100) (Lynch et al., 2000). See also Currarino syndrome (176450), a similar disorder caused by mutation in the HLXB9 gene (142994) on chromosome 7q36. Currarino syndrome classically comprises the triad of hemisacrum, anorectal malformation, and presacral mass. However, Currarino syndrome also shows phenotypic variability: Lynch et al. (2000) stated that there is variable expressivity of clinical features and that some patients with Currarino syndrome are asymptomatic. Kochling et al. (2001) found the complete triad of Currarino syndrome in only 8 of 23 patients with mutations in the HLXB9 gene, These reports suggest that some patients previously reported as having forms of sacral agenesis, including SDAM, may have had Currarino syndrome and vice versa. See also spina bifida (182940), which can be seen in some patients with sacral agenesis or caudal regression syndrome and may be etiologically related.
Disorganization, mouse, homolog of
MedGen UID:
387773
Concept ID:
C1857230
Finding

Professional guidelines

PubMed

Zalimas A, Posiunas G, Strupas S, Raugalas R, Raistenskis J, Verkauskas G
BMC Pediatr 2015 Oct 8;15:150. doi: 10.1186/s12887-015-0469-6. PMID: 26450698Free PMC Article
Kakizaki H, Nonomura K, Asano Y, Shinno Y, Ameda K, Koyanagi T
J Urol 1994 Apr;151(4):1041-4. doi: 10.1016/s0022-5347(17)35172-8. PMID: 8126786

Recent clinical studies

Etiology

Walker RD 3rd, Flack CE, Hawkins-Lee B, Lim DJ, Parramore H, Hackett RL
J Urol 1995 Aug;154(2 Pt 2):771-4. PMID: 7609176
Kakizaki H, Nonomura K, Asano Y, Shinno Y, Ameda K, Koyanagi T
J Urol 1994 Apr;151(4):1041-4. doi: 10.1016/s0022-5347(17)35172-8. PMID: 8126786
Ditchfield MR, De Campo JF
Abdom Imaging 1993;18(2):191-2. doi: 10.1007/BF00198061. PMID: 8439762

Diagnosis

Kuzucu P, Türkmen T, Börcek AÖ
BMC Pediatr 2020 Apr 24;20(1):183. doi: 10.1186/s12887-020-02068-y. PMID: 32331522Free PMC Article
Faggin R, Drigo P, Denaro L, Sartori S, d'Avella D
Spine (Phila Pa 1976) 2010 Sep 15;35(20):E1069-71. doi: 10.1097/BRS.0b013e3181ed0b50. PMID: 20802384
Ditchfield MR, De Campo JF
Abdom Imaging 1993;18(2):191-2. doi: 10.1007/BF00198061. PMID: 8439762
Mariani AJ, Stern J, Khan AU, Cass AS
J Urol 1979 Nov;122(5):684-6. doi: 10.1016/s0022-5347(17)56556-8. PMID: 501826

Therapy

Zalimas A, Posiunas G, Strupas S, Raugalas R, Raistenskis J, Verkauskas G
BMC Pediatr 2015 Oct 8;15:150. doi: 10.1186/s12887-015-0469-6. PMID: 26450698Free PMC Article
Cheung AC, Kalkanis SN, Ogilvy CS
Neurosurgery 2005 Sep;57(3):E598; discussion E598. doi: 10.1227/01.neu.0000171028.96829.69. PMID: 16145510
Walker RD 3rd, Flack CE, Hawkins-Lee B, Lim DJ, Parramore H, Hackett RL
J Urol 1995 Aug;154(2 Pt 2):771-4. PMID: 7609176

Prognosis

Walker RD 3rd, Flack CE, Hawkins-Lee B, Lim DJ, Parramore H, Hackett RL
J Urol 1995 Aug;154(2 Pt 2):771-4. PMID: 7609176
Kakizaki H, Nonomura K, Asano Y, Shinno Y, Ameda K, Koyanagi T
J Urol 1994 Apr;151(4):1041-4. doi: 10.1016/s0022-5347(17)35172-8. PMID: 8126786

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