Indian Journal of Human Genetics
Home Current Issue Archives Guidelines Subscriptions e-Alerts Login 
Users online: 23
Print this page  Email this page Small font sizeDefault font sizeIncrease font size


 
            Table of Contents  
CASE REPORT
Year : 2014  |  Volume : 20  |  Issue : 2  |  Page : 206-208
 

Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature


Department of Orthopaedics, Vardhaman Mahavir Medical College and Safdarjung Hospital, New Delhi, India

Date of Web Publication14-Oct-2014

Correspondence Address:
Daipayan Chatterjee
64/10, Dhakuria Station Road, Kolkata - 700 031, West Bengal
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.142914

Rights and Permissions

 

   Abstract 

Cooks syndrome is characterized by familial congenital anonychia or onychodystrophy, hypoplasia or absence of distal phalanges of the hands and feet with brachydactyly of the fifth finger and digitalization of the thumb (triphalangism). It is listed as a "rare disease" by the Office of Rare Diseases of the National Institutes of Health. Here, we report a case of congenital anonychia and brachydactyly of the left foot, which possibly is a variant of Cooks syndrome with a positive family history of similar deformity.


Keywords: Brachydactyly, congenital anonychia, Cooks syndrome, congenital anonychia, familial, rare disease


How to cite this article:
Chatterjee D. Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature. Indian J Hum Genet 2014;20:206-8

How to cite this URL:
Chatterjee D. Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature. Indian J Hum Genet [serial online] 2014 [cited 2017 Mar 24];20:206-8. Available from: http://www.ijhg.com/text.asp?2014/20/2/206/142914



   Introduction Top


Cooks syndrome is characterized by familial congenital anonychia or onychodystrophy, hypoplasia or absence of distal phalanges of the hands and feet with brachydactyly of the fifth finger and digitalization of the thumb (triphalangism). [1] Cooks syndrome is listed as a "rare disease" by the Office of Rare Diseases of the National Institutes of Health (NIH). Here we report a case of congenital anonychia and brachydactyly of the left foot, which possibly is a variant of Cooks syndrome with a positive family history of similar deformity.


   Case Report Top


A 45-year-old male came for orthopedics consultation at a tertiary center with congenital absence of nails of all the toes of the left foot. On examination, the toes of the left foot were found to be short and bulbous with anonychia and syndactyly between toe 2 and 3 [Figure 1]. Similar abnormality was not observed in the hands or the right foot. No other skeletal anomaly was detected. Sexual development and higher motor function was normal. No facial anomaly was detected. Radiography revealed the absence of distal phalanx of all the toes of left foot, absence of the middle phalanx of toe 2, 3, 4 and a hypoplastic middle phalanx of little toe. Metetarsals were grossly normal [Figure 2]. Radiographs of the patella and that of bilateral hands and right foot were normal. The patient recalled the presence of similar abnormality, but involving unilateral feet in his late father (C-3 in pedigree), uncle (C-1 in pedigree) and grandfather (B-1 in pedigree). All available family members were examined. The proband was unmarried and had an unaffected brother. There was a history of consanguineous marriage in the family (B1-B2 in pedigree). The pedigree chart denotes male to male transmission with a probable autosomal dominant type of inheritance [Figure 3]. The patient's day to day activities were not compromised in any way by the anomaly and hence we chose to go with observation after explaining to the patient about the anomaly.
Figure 1: Clinical picture from the front and the sides of the left foot with anonychia, brachydactyly and syndactyly between 2nd and 3rd toe

Click here to view
Figure 2: Radiograph anteroposterior and lateral views of left feet showing absence of distal phalanx of all the toes with absence of middle phalanx of toes 1-4, hypoplasia of the middle phalanx of 5th toe and normal metatarsals

Click here to view
Figure 3: Pedigree chart showing proband (D-1) and affected members of the family (B-1), (C-1) and (C-3). Consanguineous marriage is evident between B-1 and B-2. Male to male transmission is evident two levels

Click here to view



   Discussion Top


Cook et al. [1] described a syndrome characterized by onychodystrophy or anonychia, brachydactyly of the fifth finger, and digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet. Seven individuals in two generations of the same family with one instance of male-to-male transmission with probable autosomal dominant transmission had the disorder. Nevin et al. [2] described what they reported as the second family with Cooks syndrome and established it as a distinct entity. Four individuals in three successive generations were found to have bilateral anonychia of toes and 4 th and 5 th fingers of the hands with bilateral nail hypoplasia of digits 1-3 of hands along with brachydactyly. Castori et al. [3] reported a 2-year-old Caucasian girl with Cooks syndrome having short fingers with hypoplastic distal flexion creases. Nails were absent on fingers 2 and 3, severely hypoplastic on fingers 1 and 4, and moderately shortened on fingers 5. Cutaneous syndactyly of toes 2 and 3 and toes 2, 3, and 4 was evident on the left and right foot, respectively. Padmavathy et al. have reported a case of variant of Cooks syndrome affecting four digits of the right hand having brachydactyly and anonychia in a 40-year-old male. Kurth et al. [4] reported 4 families of variants of Cooks syndrome with symmetric brachydactyly of the hands and feet, along with hyponychia or anonychia. Radiographs showed missing middle phalanges and elongated terminal and proximal phalanges. Brennan et al. reported a case of Cooks syndrome with congenital anonychia, absent distal phalanges, and rudimentary hypoplastic middle phalanges and brachydactyly of bilateral feet. [5] The family reported here differs from other genetic disorders involving nail and bone dysplasias of the hands and feet. In autosomal dominant anonychia-onychodystrophy [6] no bone changes had been described. Hobbs [7] described an autosomal dominant nail dysplasia which was most marked in the first digit of the hands and feet. There were 11 affected family members with male to male transmission. Affected members showed an unusual tapering of the distal phalanx with a spatulate tip. The family described by Verbov, [8] in addition to congenital anonychia, had hyper and hypopigmentation of the axillae and groins. Family with anonychia and ectrodactyly described by Kumar and Levik [9] was characterized by relatively bizarre, asymmetric digital anomalies, including absence of one or more digits and hypoplasia of metacarpals and metatarsals, which distinguishes it from the reported case. In several genetic syndromes of congenital anonychia or onychodystrophy, other clinical features coexist such as hair and teeth anomalies, [10] eye defects, [11] deafness, [12] joint contractures, [13] mental retardation [14] ectrodactyly [15] and facial anomalies. [16],[17] Neither the family of Cooks et al. [1] nor the present one had any of the aforementioned clinical features. In this case report, the patient has congenital anonychia with brachydactyly of the left foot with a positive family history in 4 individuals in 3 generations, male to male transmission and probable autosomal dominant inheritance resembling Cooks syndrome very closely. However, since all the extremities were not involved this anomaly may be considered to be a variant of Cooks syndrome.

 
   References Top

1.
Cooks RG, Hertz M, Katznelson MB, Goodman RM. A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges. Clin Genet 1985;27:85-91.  Back to cited text no. 1
[PUBMED]    
2.
Nevin NC, Thomas PS, Eedy DJ, Shepherd C. Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): Report of a second family. J Med Genet 1995;32:638-41.  Back to cited text no. 2
    
3.
Castori M, Brancati F, Mingarelli R, Mundlos S, Dallapiccola B. A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. Am J Med Genet A 2007;143:195-9.  Back to cited text no. 3
    
4.
Kurth I, Klopocki E, Stricker S, van Oosterwijk J, Vanek S, Altmann J, et al. Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nat Genet 2009;41:862-3.  Back to cited text no. 4
[PUBMED]    
5.
Brennan CB, Buehler T, Lesher JL Jr. Cooks syndrome: A case report and brief review. Pediatr Dermatol 2013;30:e52-3.  Back to cited text no. 5
    
6.
Timerman I, Museteanu C, Simionescu NN. Dominant anonychia and onychodystrophy. J Med Genet 1969;6:105-6.  Back to cited text no. 6
[PUBMED]    
7.
Hobbs ME. Hereditary onychial dysplasia. Am J Med Sci 1935;190:200-6.  Back to cited text no. 7
    
8.
Verbov J. Anonychia with bizarre flexural pigmentation-an autosomal dominal dermatosis. Br J Dermatol 1975;92:469-74.  Back to cited text no. 8
[PUBMED]    
9.
Kumar D, Levick RK. Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly. Clin Genet 1986;30:219-25.  Back to cited text no. 9
[PUBMED]    
10.
Pinheiro M, Pereira LC, Freire-Maia N. A previously undescribed condition: Tricho-odonto-onycho-dermal syndrome. A review of the tricho-odonto-onychial subgroup of ectodermal dysplasias. Br J Dermatol 1981;105:371-82.  Back to cited text no. 10
[PUBMED]    
11.
Chemke J, Oliver M, Mallek D, Kaveh Z. Multiple ophthalmic anomalies and digital hypoplasia. J Genet Hum 1978;26:17-24.  Back to cited text no. 11
[PUBMED]    
12.
Goodman RM, Lockareff S, Gwinup G. Hereditary congenital deafness with onychodystrophy. Arch Otolaryngol 1969;90:474-7.  Back to cited text no. 12
[PUBMED]    
13.
Pfeiffer RA. The oto-onycho-peroneal syndrome. A probably new genetic entity. Eur J Pediatr 1982;138:317-20.  Back to cited text no. 13
[PUBMED]    
14.
Nevin NC, Thomas PS, Calvert J, Reid MM. Deafness, onycho-osteodystrophy, mental retardation (D.O.O.R) syndrome. Am J Med Genet 1982;13:325-32.  Back to cited text no. 14
    
15.
Lees DH, Lawler SD, Renwick JH, Thoday JM. Anonychia with ectrodactyly: Clinical and linkage data. Ann Hum Genet 1957;22:69-79.  Back to cited text no. 15
[PUBMED]    
16.
Houlston RS, Temple IK. Characteristic facies in type B brachydactyly? Clin Dysmorphol 1994;3:224-7.  Back to cited text no. 16
    
17.
Santos HG, George FH, Ferreira JR. Hereditary brachydactyly with nail aplasia. Acta Med Port 1981;3:147-60.  Back to cited text no. 17
[PUBMED]    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

Top
Print this article  Email this article
           

    

 
   Search
 
  
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Article in PDF (457 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  


    Abstract
   Introduction
   Case Report
   Discussion
    References
    Article Figures

 Article Access Statistics
    Viewed1225    
    Printed23    
    Emailed0    
    PDF Downloaded45    
    Comments [Add]    

Recommend this journal