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Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

MedGen UID:
419355
Concept ID:
C2931183
Disease or Syndrome
Synonym: FACES syndrome
SNOMED CT: FACES (facial dysmorphism, anorexia, cachexia, eye and skin anomalies) syndrome (782949007); Friedman Goodman syndrome (782949007); Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (782949007)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0016031
Orphanet: ORPHA1969

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and cafe-au-lait spots, as well as mild soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There has been no further description in the literature since 1984. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFacial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Professional guidelines

PubMed

Yeom S, Cohen B, Weiss CR, Montano C, Wohler E, Sobreira N, Hammill AM, Comi A
Am J Med Genet A 2023 Apr;191(4):983-994. Epub 2023 Jan 29 doi: 10.1002/ajmg.a.63106. PMID: 36710374
Poliner A, Fernandez Faith E, Blieden L, Kelly KM, Metry D
Pediatr Rev 2022 Sep 1;43(9):507-516. doi: 10.1542/pir.2021-005437. PMID: 36045161
Maghfour J, Ly S, Haidari W, Taylor SL, Feldman SR
J Dermatolog Treat 2022 May;33(3):1231-1242. Epub 2020 Sep 14 doi: 10.1080/09546634.2020.1818678. PMID: 32886029

Recent clinical studies

Etiology

Cammarata-Scalisi F, Diociaiuti A, Cárdenas Tadich A, Sandoval X, Oranges T, Filippeschi C, Araya Castillo M, Willoughby CE, Cerri A, Gervasini C, Callea M
Ital J Dermatol Venerol 2023 Aug;158(4):316-320. Epub 2023 Jun 7 doi: 10.23736/S2784-8671.23.07547-3. PMID: 37282850
Poliner A, Fernandez Faith E, Blieden L, Kelly KM, Metry D
Pediatr Rev 2022 Sep 1;43(9):507-516. doi: 10.1542/pir.2021-005437. PMID: 36045161
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM
Am J Hum Genet 2019 Mar 7;104(3):530-541. Epub 2019 Feb 28 doi: 10.1016/j.ajhg.2019.01.010. PMID: 30827496Free PMC Article
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article

Diagnosis

Drivenes JL, Vasilescu IC, Bygum A
Tidsskr Nor Laegeforen 2023 Mar 28;143(5) Epub 2023 Mar 7 doi: 10.4045/tidsskr.22.0513. PMID: 36987905
Poliner A, Fernandez Faith E, Blieden L, Kelly KM, Metry D
Pediatr Rev 2022 Sep 1;43(9):507-516. doi: 10.1542/pir.2021-005437. PMID: 36045161
Wang JF, Orlow SJ
Am J Clin Dermatol 2018 Oct;19(5):733-757. doi: 10.1007/s40257-018-0368-3. PMID: 30043128
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
Neri G, Zollino M, Reynolds JF
Am J Med Genet 1991 Jun 1;39(3):367-70. doi: 10.1002/ajmg.1320390323. PMID: 1867292

Therapy

Yeom S, Cohen B, Weiss CR, Montano C, Wohler E, Sobreira N, Hammill AM, Comi A
Am J Med Genet A 2023 Apr;191(4):983-994. Epub 2023 Jan 29 doi: 10.1002/ajmg.a.63106. PMID: 36710374
Zhang Y, Jin Y, Humbert P, Fan X, Cha Y, Guo Y, He L
J Cosmet Dermatol 2021 Mar;20(3):792-797. Epub 2020 Jul 25 doi: 10.1111/jocd.13610. PMID: 32710585
Wang JF, Orlow SJ
Am J Clin Dermatol 2018 Oct;19(5):733-757. doi: 10.1007/s40257-018-0368-3. PMID: 30043128
Singh AD, Suri TM, Jagdish RK, Kumar U
BMJ Case Rep 2018 May 12;2018 doi: 10.1136/bcr-2017-223506. PMID: 29754136Free PMC Article
Steiner F, FitzJohn T, Tan ST
ANZ J Surg 2016 Oct;86(10):790-795. Epub 2014 Sep 2 doi: 10.1111/ans.12833. PMID: 25182969

Prognosis

Motta M, Fasano G, Gredy S, Brinkmann J, Bonnard AA, Simsek-Kiper PO, Gulec EY, Essaddam L, Utine GE, Guarnetti Prandi I, Venditti M, Pantaleoni F, Radio FC, Ciolfi A, Petrini S, Consoli F, Vignal C, Hepbasli D, Ullrich M, de Boer E, Vissers LELM, Gritli S, Rossi C, De Luca A, Ben Becher S, Gelb BD, Dallapiccola B, Lauri A, Chillemi G, Schuh K, Cavé H, Zenker M, Tartaglia M
Am J Hum Genet 2021 Nov 4;108(11):2112-2129. Epub 2021 Oct 8 doi: 10.1016/j.ajhg.2021.09.007. PMID: 34626534Free PMC Article
Spencer SA, Sorger JI
Semin Pediatr Surg 2020 Oct;29(5):150973. Epub 2020 Sep 19 doi: 10.1016/j.sempedsurg.2020.150973. PMID: 33069292
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM
Am J Hum Genet 2019 Mar 7;104(3):530-541. Epub 2019 Feb 28 doi: 10.1016/j.ajhg.2019.01.010. PMID: 30827496Free PMC Article
Tran MC, Lam JM
Pediatr Dermatol 2016 Nov;33(6):594-601. Epub 2016 Sep 7 doi: 10.1111/pde.12971. PMID: 27601403
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article

Clinical prediction guides

Saikia B, Rawat A, Minz RW, Suri D, Pandiarajan V, Jindal A, Sahu S, Karim A, Desai M, Taur PD, Pandrowala A, Gowri V, Madkaikar M, Dalvi A, Yadav RM, Lashkari HP, Raj R, Uppuluri R, Swaminathan VV, Bhattad S, Cyril G, Kumar H, Shukla A, Kalra M, Govindaraj G, Singh S
Front Immunol 2021;12:626593. Epub 2021 Feb 26 doi: 10.3389/fimmu.2021.626593. PMID: 33717144Free PMC Article
Valdivielso-Ramos M, Martin-Santiago A, Azaña JM, Hernández-Nuñez A, Vera A, Perez B, Tercedor J, Feito M, Vicente A, Prat C, Lopez-Gutierrez JC, Garnacho G, Baselga E, Roe E, Palencia S, Cordero P, Moreno R, Agudo A, de la Cueva P, Torrelo A
Clin Exp Dermatol 2021 Mar;46(2):300-305. Epub 2020 Oct 20 doi: 10.1111/ced.14428. PMID: 32840927
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM
Am J Hum Genet 2019 Mar 7;104(3):530-541. Epub 2019 Feb 28 doi: 10.1016/j.ajhg.2019.01.010. PMID: 30827496Free PMC Article
Read AP, Newton VE
J Med Genet 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. PMID: 9279758Free PMC Article
Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P
Am J Med Genet 1995 Mar 13;56(1):42-59. doi: 10.1002/ajmg.1320560112. PMID: 7747785

Recent systematic reviews

Mohammadi T, Azizi G, Rafiemanesh H, Farahani P, Nirouei M, Tavakol M
Clin Exp Med 2023 Dec;23(8):4835-4859. Epub 2023 Nov 4 doi: 10.1007/s10238-023-01228-5. PMID: 37924455
Simmers R, Goodwin A, Al Saif H, Couser N
Ophthalmic Genet 2022 Oct;43(5):699-702. Epub 2022 Jun 27 doi: 10.1080/13816810.2022.2089358. PMID: 35762114
Preudhomme R, Veyssiere A, Ambroise B, Benateau H
J Stomatol Oral Maxillofac Surg 2022 Sep;123(4):e219-e223. Epub 2021 Nov 17 doi: 10.1016/j.jormas.2021.11.002. PMID: 34800747
Maghfour J, Ly S, Haidari W, Taylor SL, Feldman SR
J Dermatolog Treat 2022 May;33(3):1231-1242. Epub 2020 Sep 14 doi: 10.1080/09546634.2020.1818678. PMID: 32886029
Hixon AM, Christensen E, Hamilton R, Drees C
Epilepsy Behav 2021 Aug;121(Pt A):108068. Epub 2021 May 28 doi: 10.1016/j.yebeh.2021.108068. PMID: 34052630

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