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FG syndrome 3(FGS3)

MedGen UID:
375687
Concept ID:
C1845567
Disease or Syndrome
Synonym: FGS3
 
Monarch Initiative: MONDO:0010316
OMIM®: 300406

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Increased thumb width without increased dorso-ventral dimension.
Broad hallux
MedGen UID:
401165
Concept ID:
C1867131
Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Chronic constipation
MedGen UID:
98325
Concept ID:
C0401149
Sign or Symptom
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Congenital hypertrophic pyloric stenosis
MedGen UID:
196010
Concept ID:
C0700639
Congenital Abnormality
Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Corpus callosum, agenesis of
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Hyperactivity
MedGen UID:
98406
Concept ID:
C0424295
Finding
Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
Chiari type I malformation
MedGen UID:
196689
Concept ID:
C0750929
Congenital Abnormality
Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Joint contracture
MedGen UID:
3228
Concept ID:
C0009918
Anatomical Abnormality
A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Relative macrocephaly
MedGen UID:
338607
Concept ID:
C1849075
Congenital Abnormality
A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Fine hair
MedGen UID:
98401
Concept ID:
C0423867
Finding
Hair that is fine or thin to the touch.
Frontal upsweep of hair
MedGen UID:
452910
Concept ID:
C1185616
Finding
Upward and/or sideward growth of anterior hair.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Shah A, Bapna M, Al-Saif H, Li R, Couser NL
Ophthalmic Genet 2022 Feb;43(1):126-129. Epub 2021 Oct 20 doi: 10.1080/13816810.2021.1989601. PMID: 34670449
Graham JM Jr, Visootsak J, Dykens E, Huddleston L, Clark RD, Jones KL, Moeschler JB, Opitz JM, Morford J, Simensen R, Rogers RC, Schwartz CE, Friez MJ, Stevenson RE
Am J Med Genet A 2008 Dec 1;146A(23):3011-7. doi: 10.1002/ajmg.a.32553. PMID: 18973276Free PMC Article
Smith JF, Wayment RO, Cartwright PC, Snow BW, Opitz JM
J Urol 2007 Aug;178(2):656-9. Epub 2007 Jun 15 doi: 10.1016/j.juro.2007.04.007. PMID: 17574621

Diagnosis

Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM
Am J Med Genet A 2023 Jan;191(1):135-143. Epub 2022 Oct 22 doi: 10.1002/ajmg.a.63004. PMID: 36271811Free PMC Article
Bhatti GK, Khullar N, Sidhu IS, Navik US, Reddy AP, Reddy PH, Bhatti JS
Metab Brain Dis 2021 Aug;36(6):1119-1134. Epub 2021 Apr 21 doi: 10.1007/s11011-021-00739-y. PMID: 33881724Free PMC Article
Li D, Strong A, Shen KM, Cassiman D, Van Dyck M, Linhares ND, Valadares ER, Wang T, Pena SDJ, Jaeken J, Vergano S, Zackai E, Hing A, Chow P, Ganguly A, Scholz T, Bierhals T, Philipp D, Hakonarson H, Bhoj E
Genet Med 2021 Apr;23(4):637-644. Epub 2020 Nov 27 doi: 10.1038/s41436-020-01031-7. PMID: 33244166
Graham JM Jr, Schwartz CE
Am J Med Genet A 2013 Nov;161A(11):2734-40. Epub 2013 Oct 10 doi: 10.1002/ajmg.a.36183. PMID: 24123922Free PMC Article
Smith JF, Wayment RO, Cartwright PC, Snow BW, Opitz JM
J Urol 2007 Aug;178(2):656-9. Epub 2007 Jun 15 doi: 10.1016/j.juro.2007.04.007. PMID: 17574621

Therapy

Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM
Am J Med Genet A 2023 Jan;191(1):135-143. Epub 2022 Oct 22 doi: 10.1002/ajmg.a.63004. PMID: 36271811Free PMC Article

Prognosis

Chanchani SR, Xie H, Sekhon G, Melikishvili AM, Moyer Harasink S, Pall H, Giampietro PF
Mol Genet Genomic Med 2020 Mar;8(3):e1078. Epub 2020 Jan 17 doi: 10.1002/mgg3.1078. PMID: 31951325Free PMC Article
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I
Am J Med Genet A 2017 Mar;173(3):611-617. Epub 2017 Jan 31 doi: 10.1002/ajmg.a.38069. PMID: 28139025
Prontera P, Ottaviani V, Rogaia D, Isidori I, Mencarelli A, Malerba N, Cocciadiferro D, Rolph P, Stangoni G, Vulto-van Silfhout A, Merla G
Am J Med Genet A 2016 Sep;170(9):2377-82. Epub 2016 Jun 17 doi: 10.1002/ajmg.a.37805. PMID: 27312080
Neri C, Moser K, Pysher TJ, Boettger DR, Neri G, Opitz JM
Fetal Pediatr Pathol 2011;30(2):71-6. doi: 10.3109/15513815.2011.520259. PMID: 21391746
Smith JF, Wayment RO, Cartwright PC, Snow BW, Opitz JM
J Urol 2007 Aug;178(2):656-9. Epub 2007 Jun 15 doi: 10.1016/j.juro.2007.04.007. PMID: 17574621

Clinical prediction guides

Chanchani SR, Xie H, Sekhon G, Melikishvili AM, Moyer Harasink S, Pall H, Giampietro PF
Mol Genet Genomic Med 2020 Mar;8(3):e1078. Epub 2020 Jan 17 doi: 10.1002/mgg3.1078. PMID: 31951325Free PMC Article
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I
Am J Med Genet A 2017 Mar;173(3):611-617. Epub 2017 Jan 31 doi: 10.1002/ajmg.a.38069. PMID: 28139025
Prontera P, Ottaviani V, Rogaia D, Isidori I, Mencarelli A, Malerba N, Cocciadiferro D, Rolph P, Stangoni G, Vulto-van Silfhout A, Merla G
Am J Med Genet A 2016 Sep;170(9):2377-82. Epub 2016 Jun 17 doi: 10.1002/ajmg.a.37805. PMID: 27312080
Lesca G, Moizard MP, Bussy G, Boggio D, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Des Portes V, Labalme A, Sanlaville D, Edery P, Raynaud M, Lespinasse J
Am J Med Genet A 2013 Dec;161A(12):3063-71. Epub 2013 Aug 16 doi: 10.1002/ajmg.a.36162. PMID: 24039113
Short KM, Hopwood B, Yi Z, Cox TC
BMC Cell Biol 2002;3:1. Epub 2002 Jan 4 doi: 10.1186/1471-2121-3-1. PMID: 11806752Free PMC Article

Recent systematic reviews

Shah A, Bapna M, Al-Saif H, Li R, Couser NL
Ophthalmic Genet 2022 Feb;43(1):126-129. Epub 2021 Oct 20 doi: 10.1080/13816810.2021.1989601. PMID: 34670449

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