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Upper limb defect-eye and ear abnormalities syndrome

MedGen UID:
376448
Concept ID:
C1848816
Disease or Syndrome
Synonym: Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness
 
Monarch Initiative: MONDO:0010125
OMIM®: 274205
Orphanet: ORPHA2489

Definition

A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. [from ORDO]

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).
Short thumb
MedGen UID:
98469
Concept ID:
C0431890
Congenital Abnormality
Hypoplasia (congenital reduction in size) of the thumb.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Abnormal antihelix morphology
MedGen UID:
867037
Concept ID:
C4021395
Anatomical Abnormality
An abnormality of the antihelix.
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.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Chorioretinal coloboma
MedGen UID:
66820
Concept ID:
C0240896
Congenital Abnormality
Absence of a region of the retina, retinal pigment epithelium, and choroid.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUpper limb defect-eye and ear abnormalities syndrome
Follow this link to review classifications for Upper limb defect-eye and ear abnormalities syndrome in Orphanet.

Professional guidelines

PubMed

Ogita S, Hasegawa H, Matsumoto M, Kamei T, Shimamoto T
Obstet Gynecol 1974 Jun;43(6):887-92. PMID: 4597791
Hall B
Clin Pediatr (Phila) 1966 Jan;5(1):4-12. doi: 10.1177/000992286600500102. PMID: 4221291

Recent clinical studies

Etiology

Renkema RW, Houwen T, van Nieuwenhoven CA, Padwa BL, Forrest CR, Dunaway DJ, Koudstaal MJ, Caron CJJM
Plast Reconstr Surg 2023 May 1;151(5):1053-1061. Epub 2022 Dec 21 doi: 10.1097/PRS.0000000000010090. PMID: 36729069Free PMC Article
Sekulic S, Lemajic-Komazec S, Sokolovac I, Topalidou A, Gouni O, Petkovic B, Martac L, Kekovic G, Redzek-Mudrinic T, Capo I
Fetal Pediatr Pathol 2021 Dec;40(6):674-684. Epub 2020 Mar 11 doi: 10.1080/15513815.2020.1737993. PMID: 32159401
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919
Seto ML, Lee SJ, Sze RW, Cunningham ML
Am J Med Genet 2001 Dec 15;104(4):323-30. doi: 10.1002/ajmg.10065. PMID: 11754069
Loesch DZ, Lafranchi M, Scott D
Am J Med Genet 1988 May-Jun;30(1-2):149-64. doi: 10.1002/ajmg.1320300113. PMID: 3177440

Diagnosis

Renkema RW, Houwen T, van Nieuwenhoven CA, Padwa BL, Forrest CR, Dunaway DJ, Koudstaal MJ, Caron CJJM
Plast Reconstr Surg 2023 May 1;151(5):1053-1061. Epub 2022 Dec 21 doi: 10.1097/PRS.0000000000010090. PMID: 36729069Free PMC Article
Beaudoux O, Lebre AS, Doco Fenzy M, Spodenkiewicz M, Canivet E, Colosio C, Poirsier C
Am J Med Genet A 2021 Mar;185(3):937-944. Epub 2021 Jan 13 doi: 10.1002/ajmg.a.62050. PMID: 33438842
Martinez-Moreno A, Ocampo-Candiani J, Alba-Rojas E
Pediatr Dermatol 2020 Sep;37(5):821-826. Epub 2020 Jul 20 doi: 10.1111/pde.14245. PMID: 32686866
Li Y, Rui X, Li N
Paediatr Respir Rev 2020 Feb;33:24-27. Epub 2019 Oct 8 doi: 10.1016/j.prrv.2019.09.004. PMID: 31734186
Oliver JD, Menapace DC, Cofer SA
Int J Pediatr Otorhinolaryngol 2017 Jul;98:4-8. Epub 2017 Apr 24 doi: 10.1016/j.ijporl.2017.04.035. PMID: 28583501

Therapy

Kodytková A, Dušátková P, Amaratunga SA, Plachý L, Průhová Š, Lebl J
Horm Res Paediatr 2024;97(2):106-112. Epub 2023 Jun 7 doi: 10.1159/000531452. PMID: 37285827Free PMC Article
Kaur P, Chaudhry C, Neelam H, Panigrahi I
BMJ Case Rep 2021 Jan 28;14(1) doi: 10.1136/bcr-2020-236325. PMID: 33509858Free PMC Article
Caba L, Rusu C, Butnariu L, Panzaru M, Braha E, Volosciuc M, Popescu R, Gramescu M, Bujoran C, Martiniuc V, Covic M, Gorduza EV
Rev Med Chir Soc Med Nat Iasi 2013 Apr-Jun;117(2):321-7. PMID: 24340511
Karim S, Majithia V
Am J Med Sci 2009 Sep;338(3):245-7. doi: 10.1097/MAJ.0b013e3181a8be1d. PMID: 19745613
Loesch DZ, Lafranchi M, Scott D
Am J Med Genet 1988 May-Jun;30(1-2):149-64. doi: 10.1002/ajmg.1320300113. PMID: 3177440

Prognosis

Yang G, Yin Y, Tan Z, Liu J, Deng X, Yang Y
BMC Med Genomics 2021 Jan 21;14(1):24. doi: 10.1186/s12920-021-00871-9. PMID: 33478437Free PMC Article
Beaudoux O, Lebre AS, Doco Fenzy M, Spodenkiewicz M, Canivet E, Colosio C, Poirsier C
Am J Med Genet A 2021 Mar;185(3):937-944. Epub 2021 Jan 13 doi: 10.1002/ajmg.a.62050. PMID: 33438842
Martinez-Moreno A, Ocampo-Candiani J, Alba-Rojas E
Pediatr Dermatol 2020 Sep;37(5):821-826. Epub 2020 Jul 20 doi: 10.1111/pde.14245. PMID: 32686866
Seto ML, Lee SJ, Sze RW, Cunningham ML
Am J Med Genet 2001 Dec 15;104(4):323-30. doi: 10.1002/ajmg.10065. PMID: 11754069
Viljoen D
J Med Genet 1994 Aug;31(8):640-3. doi: 10.1136/jmg.31.8.640. PMID: 7815423Free PMC Article

Clinical prediction guides

Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R
Brain 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. PMID: 37951597Free PMC Article
Renkema RW, Houwen T, van Nieuwenhoven CA, Padwa BL, Forrest CR, Dunaway DJ, Koudstaal MJ, Caron CJJM
Plast Reconstr Surg 2023 May 1;151(5):1053-1061. Epub 2022 Dec 21 doi: 10.1097/PRS.0000000000010090. PMID: 36729069Free PMC Article
Yang G, Yin Y, Tan Z, Liu J, Deng X, Yang Y
BMC Med Genomics 2021 Jan 21;14(1):24. doi: 10.1186/s12920-021-00871-9. PMID: 33478437Free PMC Article
Eker HK
Childs Nerv Syst 2021 May;37(5):1779-1784. Epub 2020 Aug 18 doi: 10.1007/s00381-020-04843-9. PMID: 32809063
Roelfsema NM, Cobben JM
Clin Dysmorphol 1996 Apr;5(2):115-27. doi: 10.1097/00019605-199604000-00003. PMID: 8723561

Recent systematic reviews

Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919

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