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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).
See: Feature record | Search on this feature
Short thumb
MedGen UID:
98469
•Concept ID:
C0431890
•
Congenital Abnormality
Hypoplasia (congenital reduction in size) of the thumb.
See: Feature record | Search on this feature
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature
Abnormal antihelix morphology
MedGen UID:
867037
•Concept ID:
C4021395
•
Anatomical Abnormality
An abnormality of the antihelix.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Chorioretinal coloboma
MedGen UID:
66820
•Concept ID:
C0240896
•
Congenital Abnormality
Absence of a region of the retina, retinal pigment epithelium, and choroid.
See: Feature record | Search on this feature
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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

Prenatal diagnosis of E trisomy syndrome by fetography.
Ogita S, Hasegawa H, Matsumoto M, Kamei T, Shimamoto T
Obstet Gynecol 1974 Jun;43(6):887-92. PMID: 4597791
Mongolism in newborn infants. An examination of the criteria for recognition and some speculations on the pathogenic activity of the chromosomal abnormality.
Hall B
Clin Pediatr (Phila) 1966 Jan;5(1):4-12. doi: 10.1177/000992286600500102. PMID: 4221291

Recent clinical studies

Etiology

Upper and Lower Limb Anomalies in Craniofacial Microsomia and Its Relation to the OMENS+ Classification: A Multicenter Study of 688 Patients.
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
Inner Ear Malformations in Congenital Deafness Are Not Associated with Increased Risk of Breech Presentation.
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
Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919
Phenotypic variability in Patau syndrome.
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
Another TWIST on Baller-Gerold syndrome.
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

Diagnosis

Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.
Yan X, Wang J, Yang W, Li L, Shen T, Geng J, Zhang Q, Zhong M, Xiong W, Bu F, Lu Y, Zhao Y, Cheng J, Yuan H
J Med Genet 2024 Apr 19;61(5):459-468. doi: 10.1136/jmg-2023-109579. PMID: 38296632Free PMC Article
Upper and Lower Limb Anomalies in Craniofacial Microsomia and Its Relation to the OMENS+ Classification: A Multicenter Study of 688 Patients.
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
Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.
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
Epidermolysis bullosa with congenital absence of skin: Review of the literature.
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
Genetic factors in isolated and syndromic laryngeal cleft.
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

Therapy

Integrative Role of the SALL4 Gene: From Thalidomide Embryopathy to Genetic Defects of the Upper Limb, Internal Organs, Cerebral Midline, and Pituitary.
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
Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis.
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
Phenotypic variability in Patau syndrome.
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
Devic's syndrome as initial presentation of systemic lupus erythematosus.
Karim S, Majithia V
Am J Med Sci 2009 Sep;338(3):245-7. doi: 10.1097/MAJ.0b013e3181a8be1d. PMID: 19745613
Anthropometry in Martin-Bell syndrome.
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

Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.
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
Epidermolysis bullosa with congenital absence of skin: Review of the literature.
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
Phenotypic variability in Patau syndrome.
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
Another TWIST on Baller-Gerold syndrome.
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
Congenital contractural arachnodactyly (Beals syndrome).
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

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
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
Upper and Lower Limb Anomalies in Craniofacial Microsomia and Its Relation to the OMENS+ Classification: A Multicenter Study of 688 Patients.
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
Clinical manifestations of 11 children with fronto-ocular syndrome (FOS): a case series.
Eker HK
Childs Nerv Syst 2021 May;37(5):1779-1784. Epub 2020 Aug 18 doi: 10.1007/s00381-020-04843-9. PMID: 32809063
Two cases of Townes-Brocks syndrome.
Doray B, Langer B, Stoll C
Genet Couns 1999;10(4):359-67. PMID: 10631923
The EEC syndrome: a literature study.
Roelfsema NM, Cobben JM
Clin Dysmorphol 1996 Apr;5(2):115-27. doi: 10.1097/00019605-199604000-00003. PMID: 8723561

Recent systematic reviews

Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919

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