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Multiple synostoses syndrome 3(SYNS3)

MedGen UID:
414116
Concept ID:
C2751826
Disease or Syndrome
Synonym: SYNS3
 
Gene (location): FGF9 (13q12.11)
 
Monarch Initiative: MONDO:0013064
OMIM®: 612961

Definition

Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene. [from MONDO]

Clinical features

From HPO
Cubitus valgus
MedGen UID:
490152
Concept ID:
C0158465
Acquired Abnormality
Abnormal positioning in which the elbows are turned out.
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Increased thumb width without increased dorso-ventral dimension.
Hallux varus
MedGen UID:
107471
Concept ID:
C0546297
Anatomical Abnormality
Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.
Cutaneous syndactyly of toes
MedGen UID:
320423
Concept ID:
C1834737
Congenital Abnormality
A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.
Limited interphalangeal movement
MedGen UID:
374383
Concept ID:
C1840089
Finding
Broad hallux
MedGen UID:
401165
Concept ID:
C1867131
Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Humeroradial synostosis
MedGen UID:
418931
Concept ID:
C2930865
Disease or Syndrome
An abnormal osseous union (fusion) between the radius and the humerus.
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Metatarsal synostosis
MedGen UID:
349573
Concept ID:
C1862697
Finding
Metacarpal synostosis
MedGen UID:
867040
Concept ID:
C4021398
Anatomical Abnormality
Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.

Term Hierarchy

Recent clinical studies

Etiology

Schmetz A, Schaper J, Thelen S, Rana M, Klenzner T, Schaumann K, Beygo J, Surowy H, Lüdecke HJ, Wieczorek D
Genes (Basel) 2023 Mar 15;14(3) doi: 10.3390/genes14030724. PMID: 36980996Free PMC Article

Prognosis

Dobson SM, Kiss C, Borschneck D, Heath KE, Gross A, Glucksman MJ, Guerin A
Am J Med Genet A 2022 Jul;188(7):2162-2167. Epub 2022 Mar 22 doi: 10.1002/ajmg.a.62729. PMID: 35316564

Clinical prediction guides

Dobson SM, Kiss C, Borschneck D, Heath KE, Gross A, Glucksman MJ, Guerin A
Am J Med Genet A 2022 Jul;188(7):2162-2167. Epub 2022 Mar 22 doi: 10.1002/ajmg.a.62729. PMID: 35316564

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