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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

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Recent clinical studies

Etiology

Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919
Mohammad A
Dermatol Online J 2015 Jan 15;21(1) PMID: 25612123
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Prepageran N, Raman R
Ear Nose Throat J 2003 Aug;82(8):626-7. PMID: 14503102
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Diagnosis

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
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919
Viljoen D
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Lakshminarayana P, Janardhan K, David HS
Indian J Pediatr 1991 Mar-Apr;58(2):253-8. doi: 10.1007/BF02751131. PMID: 1879907

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
Breinbauer HA, Eyzaguirre M, Herrero D, Delano PH
Eur Ann Otorhinolaryngol Head Neck Dis 2022 Aug;139(4):226-229. Epub 2021 Sep 21 doi: 10.1016/j.anorl.2021.07.010. PMID: 34561196
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
Prepageran N, Raman R
Ear Nose Throat J 2003 Aug;82(8):626-7. PMID: 14503102

Prognosis

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
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
Seto ML, Lee SJ, Sze RW, Cunningham ML
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Clinical prediction guides

Létard P, Guimiot F, Dupont C, Rosenblatt J, Delezoide AL, Khung-Savatovsky S
Am J Med Genet A 2018 Nov;176(11):2325-2330. Epub 2018 Oct 17 doi: 10.1002/ajmg.a.40505. PMID: 30328679
Clark AR, Sawyer GM, Robertson SP, Sutherland-Smith AJ
Hum Mol Genet 2009 Dec 15;18(24):4791-800. Epub 2009 Sep 22 doi: 10.1093/hmg/ddp442. PMID: 19773341
Vitale E, Specchia C, Devoto M, Angius A, Rong S, Rocchi M, Schwalb M, Demelas L, Paglietti D, Manca S, Mastropaolo C, Serra G
Am J Med Genet 2001 Sep 15;103(1):1-8. doi: 10.1002/ajmg.1495. PMID: 11562927
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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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