U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Tall stature-intellectual disability-renal anomalies syndrome(TROFAS)

MedGen UID:
934682
Concept ID:
C4310715
Disease or Syndrome
Synonym: Thauvin-Robinet-Faivre syndrome
SNOMED CT: Tall stature, intellectual disability, renal anomalies syndrome (1169359006); Thauvin Robinet Faivre syndrome (1169359006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): FIBP (11q13.1)
 
Monarch Initiative: MONDO:0014918
OMIM®: 617107
Orphanet: ORPHA500095

Definition

Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016). [from OMIM]

Clinical features

From HPO
Nephroblastoma
MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
Renal malrotation
MedGen UID:
68662
Concept ID:
C0238210
Congenital Abnormality
An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.
Renal dysplasia
MedGen UID:
760690
Concept ID:
C3536714
Congenital Abnormality
The presence of developmental dysplasia of the kidney.
Bifid ureter
MedGen UID:
854360
Concept ID:
C3887498
Congenital Abnormality
Incomplete duplication of the ureter.
Renal cyst
MedGen UID:
854361
Concept ID:
C3887499
Disease or Syndrome
A fluid filled sac in the kidney.
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Pedal edema
MedGen UID:
116085
Concept ID:
C0239340
Pathologic Function
An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.
Large hands
MedGen UID:
98097
Concept ID:
C0426870
Finding
Long foot
MedGen UID:
154365
Concept ID:
C0576225
Finding
Increased back to front length of the foot.
Long hallux
MedGen UID:
400514
Concept ID:
C1864375
Finding
Increased length of the big toe.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Mitral valve prolapse
MedGen UID:
7671
Concept ID:
C0026267
Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Varicose disease
MedGen UID:
21827
Concept ID:
C0042345
Disease or Syndrome
Enlarged and tortuous veins.
Tall stature
MedGen UID:
69137
Concept ID:
C0241240
Finding
A height above that which is expected according to age and gender norms.
Large for gestational age
MedGen UID:
341215
Concept ID:
C1848395
Finding
The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.
Overgrowth
MedGen UID:
376550
Concept ID:
C1849265
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
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.
Macrotia
MedGen UID:
488785
Concept ID:
C0152421
Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Protruding ear
MedGen UID:
343309
Concept ID:
C1855285
Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Bowing of the legs
MedGen UID:
1807399
Concept ID:
C5574706
Finding
A bending or abnormal curvature affecting a long bone of the leg.
Transient neutropenia
MedGen UID:
1692023
Concept ID:
C5139431
Finding
A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.
Macroglossia
MedGen UID:
44236
Concept ID:
C0024421
Disease or Syndrome
Increased length and width of the tongue.
Round face
MedGen UID:
116087
Concept ID:
C0239479
Finding
The facial appearance is more circular than usual as viewed from the front.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Thick vermilion border
MedGen UID:
332232
Concept ID:
C1836543
Finding
Increased width of the skin of vermilion border region of upper lip.
Long palpebral fissure
MedGen UID:
340300
Concept ID:
C1849340
Finding
Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Congenital ocular coloboma
MedGen UID:
1046
Concept ID:
C0009363
Congenital Abnormality
Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain.\n\nColobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. Colobomas affecting the iris, which result in a "keyhole" appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses.\n\nSome people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus), or separation of the retina from the back of the eye (retinal detachment).\n\nSome individuals have coloboma as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When coloboma occurs by itself, it is described as nonsyndromic or isolated.\n\nColobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. While these eyelid gaps are also called colobomas, they arise from abnormalities in different structures during early development.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Retinal coloboma
MedGen UID:
761889
Concept ID:
C3540764
Disease or Syndrome
A notch or cleft of the retina.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTall stature-intellectual disability-renal anomalies syndrome

Professional guidelines

PubMed

Gachard N, Lafage-Pochitaloff M, Quessada J, Auger N, Collonge-Rame MA
Curr Res Transl Med 2023 Oct-Dec;71(4):103416. Epub 2023 Oct 21 doi: 10.1016/j.retram.2023.103416. PMID: 37865978
Kehrer-Sawatzki H, Bäzner U, Krämer J, Lewerenz J, Pfeiffer C
J Dtsch Dermatol Ges 2022 Mar;20(3):273-277. Epub 2022 Mar 4 doi: 10.1111/ddg.14707. PMID: 35246941
Herrick N, Davis C, Vargas L, Dietz H, Grossfeld P
Med Sci Sports Exerc 2017 Jul;49(7):1293-1296. doi: 10.1249/MSS.0000000000001236. PMID: 28240702Free PMC Article

Recent clinical studies

Etiology

Lui JC, Baron J
J Clin Endocrinol Metab 2024 Jan 18;109(2):312-320. doi: 10.1210/clinem/dgad420. PMID: 37450557Free PMC Article
Bardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, Lahlou N, Winder B, Grimes S, Ross JL
J Pediatr 2013 Oct;163(4):1085-94. Epub 2013 Jun 27 doi: 10.1016/j.jpeds.2013.05.037. PMID: 23810129Free PMC Article
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article
Verge CF, Mowat D
Arch Dis Child 2010 Jun;95(6):458-63. Epub 2010 Apr 6 doi: 10.1136/adc.2009.157693. PMID: 20371592
Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, Kanters JK, Corfield VA, Christiansen M
Hum Mutat 2009 Nov;30(11):1486-511. doi: 10.1002/humu.21106. PMID: 19862833

Diagnosis

Marques P, Korbonits M
Front Neuroendocrinol 2019 Jan;52:113-143. Epub 2018 Nov 15 doi: 10.1016/j.yfrne.2018.11.001. PMID: 30448536
Bardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, Lahlou N, Winder B, Grimes S, Ross JL
J Pediatr 2013 Oct;163(4):1085-94. Epub 2013 Jun 27 doi: 10.1016/j.jpeds.2013.05.037. PMID: 23810129Free PMC Article
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article
Verge CF, Mowat D
Arch Dis Child 2010 Jun;95(6):458-63. Epub 2010 Apr 6 doi: 10.1136/adc.2009.157693. PMID: 20371592
Tatton-Brown K, Rahman N
Eur J Hum Genet 2007 Mar;15(3):264-71. Epub 2006 Sep 13 doi: 10.1038/sj.ejhg.5201686. PMID: 16969376

Therapy

Flannigan R, Patel P, Paduch DA
Sex Med Rev 2018 Oct;6(4):595-606. Epub 2018 Apr 19 doi: 10.1016/j.sxmr.2018.02.008. PMID: 29680294
Sabin MA, Werther GA, Kiess W
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):207-20. doi: 10.1016/j.beem.2010.09.010. PMID: 21396586
Lemez P, Attarbaschi A, Béné MC, Bertrand Y, Castoldi G, Forestier E, Garand R, Haas OA, Kagialis-Girard S, Ludwig WD, Matutes E, Mejstríková E, Pages MP, Pickl W, Porwit A, Orfao A, Schabath R, Starý J, Strobl H, Talmant P, van't Veer MB, Zemanová Z; European Group for the Immunological Characterization of Leukemias (EGIL)
Eur J Haematol 2010 Oct;85(4):300-8. doi: 10.1111/j.1600-0609.2010.01493.x. PMID: 20561032
Bojesen A, Gravholt CH
Nat Clin Pract Urol 2007 Apr;4(4):192-204. doi: 10.1038/ncpuro0775. PMID: 17415352
Mehta D, Warwick GL, Goldberg MJ
Br Heart J 1986 Mar;55(3):308-10. doi: 10.1136/hrt.55.3.308. PMID: 3954915Free PMC Article

Prognosis

Khadilkar V, Shah N
Indian J Pediatr 2021 Dec;88(12):1214-1221. Epub 2021 Aug 18 doi: 10.1007/s12098-021-03893-4. PMID: 34406593
Zhang W, Qian F, Lu G, Wu Y, Li R, Xia L, Zhao R, Lin Y, Gu M, Chen W
Medicine (Baltimore) 2020 Dec 11;99(50):e23266. doi: 10.1097/MD.0000000000023266. PMID: 33327247Free PMC Article
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium, Rahman N
Am J Med Genet A 2013 Dec;161A(12):2972-80. Epub 2013 Nov 8 doi: 10.1002/ajmg.a.36229. PMID: 24214728
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article
Bojesen A, Gravholt CH
Nat Clin Pract Urol 2007 Apr;4(4):192-204. doi: 10.1038/ncpuro0775. PMID: 17415352

Clinical prediction guides

Cannova S, Meossi C, Grilli F, Milani D, Alberti F, Cesaretti C, Marchisio PG, Crosti F, Pezzani L
Clin Genet 2024 Mar;105(3):313-316. Epub 2023 Nov 22 doi: 10.1111/cge.14455. PMID: 37990933
Kehrer-Sawatzki H, Bäzner U, Krämer J, Lewerenz J, Pfeiffer C
J Dtsch Dermatol Ges 2022 Mar;20(3):273-277. Epub 2022 Mar 4 doi: 10.1111/ddg.14707. PMID: 35246941
Khadilkar V, Shah N
Indian J Pediatr 2021 Dec;88(12):1214-1221. Epub 2021 Aug 18 doi: 10.1007/s12098-021-03893-4. PMID: 34406593
Wit JM, de Luca F
Growth Horm IGF Res 2016 Jun;28:57-61. Epub 2015 Nov 30 doi: 10.1016/j.ghir.2015.11.005. PMID: 26670721
Frühmesser A, Kotzot D
Sex Dev 2011;5(3):109-23. Epub 2011 Apr 29 doi: 10.1159/000327324. PMID: 21540567

Recent systematic reviews

Flannigan R, Patel P, Paduch DA
Sex Med Rev 2018 Oct;6(4):595-606. Epub 2018 Apr 19 doi: 10.1016/j.sxmr.2018.02.008. PMID: 29680294

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...