Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Supraumbilical raphe

MedGen UID:: 1615232
•Concept ID:: C4539078
•: Anatomical Abnormality

Synonym:	Midline supraumbilical raphe

HPO:	HP:0410276

Definition

An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button). [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSupraumbilical raphe

Abnormality of the musculoskeletal system
- Abnormality of the skeletal system
  - Abnormal skeletal morphology
    - Abnormal axial skeleton morphology
      - Abnormal thorax morphology
        Abnormal sternum morphology
        Supraumbilical raphe

Conditions with this feature

Cavernous hemangiomas of face-supraumbilical midline raphe syndrome

MedGen UID:: 99171
•Concept ID:: C0472694
•: Neoplastic Process

See: Condition Record

Primary intraosseous venous malformation

MedGen UID:: 376071
•Concept ID:: C1847197
•: Disease or Syndrome

Primary intraosseous vascular malformation (VMPI), previously called intraosseous hemangioma, is a rare malformation that usually involves the vertebral column and the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequent (Vargel et al., 2002).

See: Condition Record

Cavernous hemangiomas of face-supraumbilical midline raphe syndrome

Primary intraosseous venous malformation

Professional guidelines

PubMed

Vascular Anomaly Syndromes in the ISSVA Classification System: Imaging Findings and Role of Interventional Radiology in Management.

Wang MX, Kamel S, Elsayes KM, Guillerman RP, Habiba A, Heng L, Revzin M, Mellnick V, Iacobas I, Chau A
Radiographics 2022 Oct;42(6):1598-1620. doi: 10.1148/rg.210234. PMID: 36190850

Oral propranolol in the treatment of proliferating infantile haemangiomas: British Society for Paediatric Dermatology consensus guidelines.

Solman L, Glover M, Beattie PE, Buckley H, Clark S, Gach JE, Giardini A, Helbling I, Hewitt RJ, Laguda B, Langan SM, Martinez AE, Murphy R, Proudfoot L, Ravenscroft J, Shahidullah H, Shaw L, Syed SB, Wells L, Flohr C
Br J Dermatol 2018 Sep;179(3):582-589. doi: 10.1111/bjd.16779. PMID: 29774538

Propranolol for the treatment of infantile haemangiomas: our experience with 44 patients.

Lynch M, Lenane P, O'Donnell BF
Clin Exp Dermatol 2014 Mar;39(2):142-5. Epub 2013 Dec 2 doi: 10.1111/ced.12210. PMID: 24289272

See all (3)

Recent clinical studies

Etiology

PHACES Syndrome and Associated Anomalies: Risk Associated With Small and Large Facial Hemangiomas.

Proisy M, Powell J, McCuaig C, Jalbout RE, Lapierre C, Dubois J
AJR Am J Roentgenol 2021 Aug;217(2):507-514. Epub 2021 May 26 doi: 10.2214/AJR.20.23488. PMID: 34036811

Hamartomas and midline anomalies in association with infantile hemangiomas, PHACE, and LUMBAR syndromes.

Stefanko NS, Davies OMT, Beato MJ, Blei F, Drolet BA, Fairley J, Frieden IJ, Galligan ER, Goddard D, Howard R, Husain S, Lauren CT, Lopez-Gutierrez JC, MacArthur C, Metry DW, Morel KD, Niedt GW, Garzon MC, Sokumbi O, Siegel DH
Pediatr Dermatol 2020 Jan;37(1):78-85. Epub 2019 Oct 20 doi: 10.1111/pde.14006. PMID: 31631401

Dental root abnormalities in four children with PHACE syndrome.

Youssef MJ, Siegel DH, Chiu YE, Drolet BA, Hodgson BD
Pediatr Dermatol 2019 Jul;36(4):505-508. Epub 2019 Apr 1 doi: 10.1111/pde.13818. PMID: 30933385 Free PMC Article

Tooth enamel hypoplasia in PHACE syndrome.

Chiu YE, Siegel DH, Drolet BA, Hodgson BD
Pediatr Dermatol 2014 Jul-Aug;31(4):455-8. Epub 2014 Jun 11 doi: 10.1111/pde.12361. PMID: 24916277

Association of solitary, segmental hemangiomas of the skin with visceral hemangiomatosis.

Metry DW, Hawrot A, Altman C, Frieden IJ
Arch Dermatol 2004 May;140(5):591-6. doi: 10.1001/archderm.140.5.591. PMID: 15148105

See all (13)

Diagnosis

PHACES-like syndrome with TMEM260 compound heterozygous variants.

Kuroda Y, Saito Y, Enomoto Y, Naruto T, Mitsui J, Kurosawa K
Am J Med Genet A 2023 Aug;191(8):2215-2218. Epub 2023 May 14 doi: 10.1002/ajmg.a.63245. PMID: 37183566

PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause.

Siegel DH
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):407-413. doi: 10.1002/ajmg.c.31659. PMID: 30580483

Neurocutaneous vascular syndromes.

Puttgen KB, Lin DD
Childs Nerv Syst 2010 Oct;26(10):1407-15. Epub 2010 Jun 27 doi: 10.1007/s00381-010-1201-3. PMID: 20582592

Small facial haemangioma and supraumbilical raphe--a forme fruste of PHACES syndrome?

Chan YC, Eichenfield LF, Malchiodi J, Friedlander SF
Br J Dermatol 2005 Nov;153(5):1053-7. doi: 10.1111/j.1365-2133.2005.06886.x. PMID: 16225625

Potential complications of segmental hemangiomas of infancy.

Metry DW
Semin Cutan Med Surg 2004 Jun;23(2):107-15. doi: 10.1016/j.sder.2004.01.004. PMID: 15295920

See all (20)

Therapy

Oral propranolol in the treatment of proliferating infantile haemangiomas: British Society for Paediatric Dermatology consensus guidelines.

Propranolol and prednisolone combination for the treatment of segmental haemangioma in PHACES syndrome.

Gnarra M, Solman L, Harper J, Batul Syed S
Br J Dermatol 2015 Jul;173(1):242-6. Epub 2015 May 18 doi: 10.1111/bjd.13588. PMID: 25639889

Propranolol for the treatment of infantile haemangiomas: our experience with 44 patients.

Lynch M, Lenane P, O'Donnell BF
Clin Exp Dermatol 2014 Mar;39(2):142-5. Epub 2013 Dec 2 doi: 10.1111/ced.12210. PMID: 24289272

Non-random maternal X-chromosome inactivation associated with PHACES.

Levin JH, Kaler SG
Clin Genet 2007 Oct;72(4):345-50. doi: 10.1111/j.1399-0004.2007.00851.x. PMID: 17850631

See all (4)

Prognosis

PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause.

Siegel DH
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):407-413. doi: 10.1002/ajmg.c.31659. PMID: 30580483

A method to preserve limbus during penetrating keratoplasty for a case of presumed PHACES syndrome with sclerocornea: A case report.

Ho YJ, Chen HC, Chang SHL, Yeh LK, Ma DH
Medicine (Baltimore) 2016 Oct;95(41):e4938. doi: 10.1097/MD.0000000000004938. PMID: 27741106 Free PMC Article

A comparison of disease severity among affected male versus female patients with PHACE syndrome.

Metry DW, Siegel DH, Cordisco MR, Pope E, Prendiville J, Drolet BA, Horii KA, Stein SL, Frieden IJ
J Am Acad Dermatol 2008 Jan;58(1):81-7. Epub 2007 Oct 29 doi: 10.1016/j.jaad.2007.09.009. PMID: 18029054

PHACES: a neurocutaneous syndrome with anomalies of the aorta and supraaortic vessels.

Wendelin G, Kitzmüller E, Salzer-Muhar U
Cardiol Young 2004 Apr;14(2):206-9. doi: 10.1017/S1047951104002173. PMID: 15691414

Potential complications of segmental hemangiomas of infancy.

Metry DW
Semin Cutan Med Surg 2004 Jun;23(2):107-15. doi: 10.1016/j.sder.2004.01.004. PMID: 15295920

See all (5)