Splenogonadal fusion-limb defects-micrognathia syndrome

MedGen UID:: 401073
•Concept ID:: C1866745
•: Disease or Syndrome

Synonyms:	SPLENOGONADAL FUSION LIMB DEFECT SYNDROME; Splenogonadal fusion limb defects micrognatia; Splenogonadal fusion limb defects syndrome; SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA
SNOMED CT:	Splenogonadal fusion, limb defect, micrognathia syndrome (726724005); SGFLD (splenogonadal fusion limb defect syndrome) syndrome (726724005); Splenogonadal fusion limb defect syndrome (726724005)

Monarch Initiative:	MONDO:0008460
OMIM®:	183300
Orphanet:	ORPHA2063

Definition

Splenogonadal fusion (SGF) is a rare congenital anomaly of abnormal fusion between the spleen and the gonad or the remnants of the mesonephros. In 'continuous SGF,' there is a cord-like connection between the 2 organs, whereas in 'discontinuous SGF,' there is fusion of accessory splenic tissue and the gonad without a distinct structural connection to the spleen itself. Forty-eight percent of individuals with continuous SGF have additional malformations, compared to 9% of those with discontinuous SGF (McPherson et al., 2003). [from OMIM]

Clinical features

From HPO

Abnormality of the genitourinary system

MedGen UID:: 52948
•Concept ID:: C0042063
•: Congenital Abnormality

The presence of any abnormality of the genitourinary system.

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Micrognathia

MedGen UID:: 44428
•Concept ID:: C0025990
•: Congenital Abnormality

Developmental hypoplasia of the mandible.

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Crowded maxillary incisors

MedGen UID:: 867243
•Concept ID:: C4021602
•: Anatomical Abnormality

A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor.

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Multiple unerupted teeth

MedGen UID:: 870618
•Concept ID:: C4025069
•: Finding

The presence of multiple embedded tooth germs which have failed to erupt.

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Abnormality of head or neck
- Crowded maxillary incisors
- Multiple unerupted teeth
Abnormality of the genitourinary system
- Abnormality of the genitourinary system
Abnormality of the musculoskeletal system
- Micrognathia

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSplenogonadal fusion-limb defects-micrognathia syndrome

Branchial arch or oral-acral syndrome
- Splenogonadal fusion-limb defects-micrognathia syndrome

Follow this link to review classifications for Splenogonadal fusion-limb defects-micrognathia syndrome in Orphanet.

Recent clinical studies

Etiology

Splenogonadal fusion limb defect syndrome: report of five new cases and review.

Bonneau D, Roume J, Gonzalez M, Toutain A, Carles D, Maréchaud M, Biran-Mucignat V, Amati P, Moraine C
Am J Med Genet 1999 Oct 8;86(4):347-58. doi: 10.1002/(sici)1096-8628(19991008)86:4<347::aid-ajmg9>3.0.co;2-a. PMID: 10494091

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