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Absence deformity of leg-cataract syndrome

MedGen UID:
343374
Concept ID:
C1855523
Disease or Syndrome
Synonym: Leg, absence deformity of, with congenital cataract
 
Monarch Initiative: MONDO:0009516
OMIM®: 246000
Orphanet: ORPHA2310

Definition

A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968. [from ORDO]

Clinical features

From HPO
Abnormality of the lower limb
MedGen UID:
242750
Concept ID:
C1096086
Anatomical Abnormality
An abnormality of the leg.
Duplication involving bones of the feet
MedGen UID:
870146
Concept ID:
C4024578
Anatomical Abnormality
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Cranial nerve paralysis
MedGen UID:
57717
Concept ID:
C0151311
Disease or Syndrome
Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Spondyloepiphyseal dysplasia
MedGen UID:
20916
Concept ID:
C0038015
Finding
A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
Developmental cataract
MedGen UID:
3202
Concept ID:
C0009691
Congenital Abnormality
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
Optic nerve dysplasia
MedGen UID:
390938
Concept ID:
C2676026
Finding
The presence of developmental dysplasia of the optic nerve.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Progressive cataract
MedGen UID:
867208
Concept ID:
C4021566
Disease or Syndrome
A kind of cataract that progresses with age.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsence deformity of leg-cataract syndrome
Follow this link to review classifications for Absence deformity of leg-cataract syndrome in Orphanet.

Professional guidelines

PubMed

Patnaik MM, Tefferi A
Am J Hematol 2022 Mar 1;97(3):352-372. Epub 2022 Jan 27 doi: 10.1002/ajh.26455. PMID: 34985762
Klein DA, Paradise SL, Reeder RM
Am Fam Physician 2019 Jul 1;100(1):39-48. PMID: 31259490
Escobar-Morreale HF
Nat Rev Endocrinol 2018 May;14(5):270-284. Epub 2018 Mar 23 doi: 10.1038/nrendo.2018.24. PMID: 29569621

Recent clinical studies

Etiology

Palit A, Inamadar AC
Indian J Dermatol Venereol Leprol 2022 May-Jun;88(4):452-463. doi: 10.25259/IJDVL_799_20. PMID: 35138057
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Guha A, Schalek P, Chovanec M
Eur Arch Otorhinolaryngol 2019 Apr;276(4):939-944. Epub 2019 Jan 30 doi: 10.1007/s00405-019-05310-1. PMID: 30701275
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Diagnosis

Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Adil R, Qayyum A
J Ayub Med Coll Abbottabad 2013 Jan-Jun;25(1-2):208-9. PMID: 25098098
Hingorani M, Hanson I, van Heyningen V
Eur J Hum Genet 2012 Oct;20(10):1011-7. Epub 2012 Jun 13 doi: 10.1038/ejhg.2012.100. PMID: 22692063Free PMC Article
Hwang KS, Ding DC, Chang YK, Chen WH, Chu TY
J Chin Med Assoc 2007 Jul;70(7):298-301. doi: 10.1016/S1726-4901(07)70009-6. PMID: 17631468

Therapy

Santoro JD, Filipink RA, Baumer NT, Bulova PD, Handen BL
Curr Opin Psychiatry 2023 Mar 1;36(2):96-103. Epub 2022 Dec 29 doi: 10.1097/YCO.0000000000000845. PMID: 36705008
Isojima T, Yokoya S
Front Endocrinol (Lausanne) 2022;13:1068128. Epub 2023 Jan 12 doi: 10.3389/fendo.2022.1068128. PMID: 36714599Free PMC Article
Samanta D
Brain Dev 2021 Jan;43(1):32-44. Epub 2020 Sep 4 doi: 10.1016/j.braindev.2020.08.014. PMID: 32893075Free PMC Article
Sayuk GS, Gyawali CP
Drugs 2020 Sep;80(13):1319-1336. doi: 10.1007/s40265-020-01362-4. PMID: 32691294
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Prognosis

Litrenta J, Young M, Birch JG, Oetgen ME
J Am Acad Orthop Surg 2019 Mar 15;27(6):e268-e279. doi: 10.5435/JAAOS-D-16-00838. PMID: 30418269
Izumi K, Krantz ID
Am J Med Genet C Semin Med Genet 2014 Dec;166C(4):406-13. Epub 2014 Nov 25 doi: 10.1002/ajmg.c.31423. PMID: 25425112
Le Goff C, Michot C, Cormier-Daire V
Clin Genet 2014 Jun;85(6):503-13. Epub 2014 Apr 2 doi: 10.1111/cge.12365. PMID: 24580733
Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391Free 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

Clinical prediction guides

Litrenta J, Young M, Birch JG, Oetgen ME
J Am Acad Orthop Surg 2019 Mar 15;27(6):e268-e279. doi: 10.5435/JAAOS-D-16-00838. PMID: 30418269
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE
Genet Med 2019 Jun;21(6):1295-1307. Epub 2018 Nov 8 doi: 10.1038/s41436-018-0330-z. PMID: 30349098Free PMC Article
Shreve M, Chu A
Bull Hosp Jt Dis (2013) 2016 Mar;74(1):97-108. PMID: 26977555
Gubler MC
Pediatr Nephrol 2014 Jan;29(1):51-9. Epub 2013 May 1 doi: 10.1007/s00467-013-2480-1. PMID: 23636579
Read AP, Newton VE
J Med Genet 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. PMID: 9279758Free PMC Article

Recent systematic reviews

Scott G, Gillon TE, Pels A, von Dadelszen P, Magee LA
Am J Obstet Gynecol 2022 Feb;226(2S):S1222-S1236. Epub 2020 Aug 20 doi: 10.1016/j.ajog.2020.08.018. PMID: 32828743
Tian Y, Yang H, Liu N, Li Y, Chen J
J Immunol Res 2021;2021:5928232. Epub 2021 Oct 7 doi: 10.1155/2021/5928232. PMID: 34660815Free PMC Article
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article
Kamath BM, Baker A, Houwen R, Todorova L, Kerkar N
J Pediatr Gastroenterol Nutr 2018 Aug;67(2):148-156. doi: 10.1097/MPG.0000000000001958. PMID: 29543694Free PMC Article
Society for Maternal-Fetal Medicine (SMFM), Norton ME, Chauhan SP, Dashe JS
Am J Obstet Gynecol 2015 Feb;212(2):127-39. Epub 2014 Dec 31 doi: 10.1016/j.ajog.2014.12.018. PMID: 25557883

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