The mouse disorganization (Ds) was described in mutant mice with multiple congenital anomalies arising from the 3 germinative layers. The human homologue of Ds was proposed in a case presenting multiple congenital anomalies associated with the unique feature of a finger-like skin appendage. Since then, several cases have been reported suggesting the occurrence of a disorganization-like (Ds-like) phenotype in humans. Here, we report a case series of 7 patients presenting with the association of orofacial clefts and finger-like skin appendages. These cases, despite the similarities with Ds and amniotic band sequence, may represent a distinct condition within the spectrum of Ds-like, as other cases previously reported in the literature.
HummelKP. The inheritance and expression of disorganization, an unusual mutation in the mouse. J Exp Zool. 1958;137(3):389-423. doi:10.1002/jez.1401370303
2.
HummelKP. Developmental anomalies in mice resulting from action of the gene, disorganization, a semi-dominant lethal. Pediatrics. 1959;23(1 Part 2):212-221.
3.
CrosbyJLVarnumDSWashburnLLNadeauJH. Disorganization is a completely dominant gain-of-function mouse mutation causing sporadic developmental defects. Mech Dev. 1992;37(3):121-126. doi:10.1016/0925-4773(92)90074-t
4.
CrosbyJLVarnumDSNadeauJH. Two-hit model for sporadic congenital anomalies in mice with the disorganization mutation. Am J Hum Genet. 1993;52(5):866-874.
5.
WinterRMDonnaiD. +. J Med Genet. 1989;26(7):417-420. doi:10.1136/jmg.26.7.417
6.
DonnaiDWinterRM. Disorganisation: A model for “early amnion rupture”?J Med Genet. 1989;26(7):421-425. doi:10.1136/jmg.26.7.421
7.
LinAE. Two additional patients representing the possible human homologue for the mouse mutant disorganisation (Ds). J Med Genet. 1991;28(9):645-647. doi:10.1136/jmg.28.9.645
8.
LowryRBYongSL. Cleft lip and palate, sensorineural deafness, and sacral lipoma in two brothers: a possible example of the disorganisation mutant. J Med Genet. 1991;28(2):135-137. doi:10.1136/jmg.28.2.135
9.
NaguibKKHamoudMSKhalilESel-KhalifaMY. Human homologue for the mouse mutant disorganisation: does it exist?J Med Genet. 1991;28(2):138-139. doi:10.1136/jmg.28.2.138
10.
RobinNHAdewaleOOMcDonald-McGinnDNadeauJHZackaiEHBućanM. Human malformations similar to those in the mouse mutation disorganization (Ds). Hum Genet. 1993;92(5):461-464. doi:10.1007/bf00216451
11.
ElliottAMChenMFAzouzEMTeebiAS. Developmental anomalies suggestive of the human homologue of the mouse mutant disorganization. Am J Med Genet. 1995;55(2):240-243. doi:10.1002/ajmg.1320550218
12.
RobinNHAbbadiNMcCandlessSENadeauJH. Disorganization in mice and humans and its relation to sporadic birth defects. Am J Med Genet. 1997;73(4):425-436. doi:10.1002/(sici)1096-8628(19971231)73:4<425::aid-ajmg11>3.0.co;2-t
13.
Corona-RiveraJRCorona-RiveraENavarro-RamírezPCastro-HernándezJFAcosta-LeónJCorona-RiveraA. Lumbopedal skin pedicle in an infant with the amniotic band syndrome: a disorganization-like defect?Clin Dysmorphol. 2003;12(1):51-54. doi:10.1097/00019605-200301000-00009
14.
IsidorBBaujatGLe CaignecC, PichonO, Martin-CoignardD, ToutainA, DavidA. Congenital skin pedicles with or without amniotic band sequence: extending the human phenotype resembling mouse disorganization. Am J Med Genet A. 2009;149A(8):1734-1739. doi:10.1002/ajmg.a.32796
15.
PurandareSMErnstLMedneLHuffDZackaiEH. Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): a report of four cases. Am J Med Genet A. 2009;149A(8):1740-1748. doi:10.1002/ajmg.a.32716
16.
HivnorCMYanACAronsonA, CrawfordG, SeykoraJ, HonigPJ, MingJE. What syndrome is this? Disorganization syndrome. Pediatr Dermatol. 2007;24(1):90-92. doi:10.1111/j.1525-1470.2007.00344.x
17.
TemtamySAAglanMSAshourAMEl-BadryTH. Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia. Clin Dysmorphol. 2010;19(1):14-22. doi:10.1097/mcd.0b013e3283337d92
18.
HunterAGW. Human equivalent of mouse disorganization: has the case been made?Am J Med Genet A. 2011;155A(4):792-804. doi:10.1002/ajmg.a.33910
19.
VallejoOGSánchezMCBCánovasCS, OntiverosJD, JiménezJIR, Bermejo-SánchezE, Martínez-FríasML. Patient with disorganization syndrome: surgical procedures, pathology, and potential causes. Birth Defects Res A Clin Mol Teratol. 2013;97(12):781-785. doi:10.1002/bdra.23203
20.
SmitKSoJSchaefferEArmstrongLVerchereCMulpuriK.The orthopaedic management of human disorganization syndrome. J Am Acad Orthop Surg Glob Res Rev. 2020;4(6):e20.00059-5. doi:10.5435/JAAOSGlobal-D-20-00059
21.
RobinNHFranklinJPruckaSRyanABGrantJH. Clefting, amniotic bands, and polydactyly: a distinct phenotype that supports an intrinsic mechanism for amniotic band sequence. Am J Med Genet A. 2005;137A(3):298-301. doi:10.1002/ajmg.a.30885
22.
ObdeijnMCOffringaPJBosRRMVerhagenAAENiessenFBRocheNA. Facial clefts and associated limb anomalies: description of three cases and a review of the literature. Cleft Palate Craniofac J. 2010;47(6):661-667. doi:10.1597/09-033
23.
CoadyMSMooreMHWallisK. Amniotic band syndrome: the association between rare facial clefts and limb ring constrictions. Plast Reconstr Surg. 1998;101(3):640-649. doi:10.1097/00006534-199803000-00010
24.
MorovicCGBerwartFVarasJ. Craniofacial anomalies of the amniotic band syndrome in serial clinical cases. Plast Reconstr Surg. 2004;113(6):1556-1562. doi:10.1097/01.prs.0000117185.25173.38
25.
LiesSBeckwithTMillsJButlerLEzakiMOishiS. Case series: amniotic band sequence with craniofacial abnormalities. Birth Defects Res. 2019;111(19):1494-1500. doi:10.1002/bdr2.1576
26.
RobinNHNadeauJH. Disorganization in mice and humans. Am J Med Genet. 2001;101(4):334-338. doi:10.1002/1096-8628(20010715)101:4<334::aid-ajmg1233>3.0.co;2-7
27.
MoogUDobynsWB. An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome. Am J Med Genet C Semin Med Genet. 2018;178(4):414-422. doi:10.1002/ajmg.c.31667
28.
MoogUJonesMCBirdLMDobynsWB. Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. J Med Genet. 2005;42(12):913-921. doi:10.1136/jmg.2005.031369
29.
SaadiIAlkurayaFSGisselbrechtSS, GoesslingW, CavallescoR, Turbe-DoanA, PetrinAL, HarrisJ, SiddiquiU, Grix JrAW, et al.Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. Am J Hum Genet. 2011;89(1):44-55. doi:10.1016/j.ajhg.2011.05.023
30.
WoodsCGTreleavenSBetherasFR, SheffieldLJ. 'Disorganization-like syndrome’ with 47, XXY and unilateral narrowing of the common iliac artery. Clin Dysmorphol. 1995;4(1):82-86.
31.
KruszkaPUwinezaAMutesaL, MartinezAF, AbeY, ZackaiEH, GanetzkyR, ChungB, StevensonRE, AdelsteinRS, et al.Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?Mol Genet Genomic Med. 2015;3(5):424-432. doi:10.1002/mgg3.153
32.
NadeauJHDavissonMTDoolittleDP, GrantP, HillyardAL, KosowskyMR, RoderickTH. Comparative map for mice and humans. Mamm Genome. 1992;3(9):480-536. doi:10.1007/bf00778825
33.
WhiteRADowlerLLPasztorLM, GatsonLL, AdkisonLR, AngeloniSV, WilsonDB. Assignment of the transcription factor GATA4 gene to human chromosome 8 and mouse chromosome 14: Gata4 is a candidate gene for Ds (disorganization). Genomics. 1995;27(1):20-26. doi:10.1006/geno.1995.1003
