Anonychia Congenita: A Rare Disease


Avinash. B. Thalkari1*, Pawan. N. Karwa2, Chandrakant S. Gawli2

1Vasant Pharmacy College, Kaij

2GurukrupaiInstitute of Pharmacy [Degree], Near Chatrapatthi Suagar Factory, NH- 222 Gadi Road,  

Majalgaon, Dist: Beed - 431131, Maharashtra

*Corresponding Author E-mail:



Anonychia congenita is a condition that affects the fingernails and toenails. Individuals with this condition are typically missing all of their fingernails and toenails (anonychia). This absence of nails is noticeable from birth (congenital). In some cases, only part of the nail is missing (hyponychia) or not all fingers and toes are affected. All of the other tissues at the tips of the fingers and toes, including structures that usually support the nail and its growth (such as the nail bed), are normal. The current review tries to stress on the different compications in the Anonychia congenita


KEYWORDS: Anonychia congenita, Fingernails, Genetic, etc.




Anonychia (absence of nails) is a very rare congenital or acquired anomaly. It may occur as a single feature or as part of a syndrome. Nonsyndromic anonychia has been reported in either partial or total forms. Simple anonychia means congenital absence of the nails without any other coexisting major congenital anomaly, and is extremely rare,1 which are sometimes hereditary.2 Anonychia occurs poradically, it may have dominant or recessive inheritance pattern Anonychia may not be complete and often there are rudimentary nailson some fingers and toes (hyponychia). 3It is caused due to frameshift and nonconservative missense mutation in the exon 2 of R-spondin 4 gene present on chromosome 20p13, which affects the highly conserved first furin-like cysteine-rich domain that plays a crucial role in nail morphogenesis, resulting in absence of nails.4,5,6


Figure Congenital absence of nails on left little finger (a), right ring finger (b) and all toes of right (c) and left foot (d).


Commom Alternative Names:

·       Absent nails

·       Anonychia

·       Aplastic nails

·       Congenital absence of nails

·       Hyponychia congenita


Mutations in the RSPO4 gene cause anonychia congenita. The RSPO4 gene provides instructions for making a protein called R-spondin-4. R-spondin-4 plays a role in the Wntsignaling pathway, a series of steps that affect the way cells and tissues develop. Wntsignaling is important for cell division, attachment of cells to one another (adhesion), cell movement (migration), and many other cellular activities. During early development, Wntsignaling plays a critical role in the growth and development of nails. R-spondin-4 is active in the skeleton and contributes to limb formation, particularly at the ends of the fingers and toes where nail development occurs. RSPO4 gene mutations lead to the production of a protein with little or no function. As a result, R-spondin-4 cannot participate in the Wntsignaling pathway and nails develop improperly or not at all. Anonychia congenita can also be part of syndromes that affect multiple parts of the body, including Coffin-Siris syndrome and nail-patella syndrome. When anonychia congenita is part of a syndrome, it is caused by mutations in the gene associated with that syndrome. 7


Signs and Symptoms:

The signs and symptoms depends on the varability of the patients. It commonly included

·       Absent Toenails

·       Absent Finernails



There is limited information regarding anonychia congenita because it is very rare. There is not any information about treatment for this condition.8



None declared.



We can conclude that anonychia congenita being a very rare disease a lot of awareness in must be spread so we can help the patients and also treatment is must to be developed.



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2.      Raja Babu K K. Nail and its disorders. In: ValiaRG, Valia AR, editors. IADVL Textbook of Dermatology. 3rd edn. Mumbai: Bhalani Publishing Home; 2008. p. 949-94.3.

3.      Rigopoulos D, Petropoulou H, Nikolopoulou M, Kalogirou O, Katsambas A. Total congenital anonychia in two children of the same family. J Euro Acad Dermatol Venerol 2006; 20: 868-902.

4.      Blaydon DC, Ishii Y, O’Toole EA, Unsworth HC, Teh MT, Rüschendorf F, et al. The gene encoding r-spondin 4 (RSPO4), a secreted protein implicated in wntsignaling, is mutated in inherited anonychia. Nat Genet 2006; 38:1245-7.

5.      Hopsu-Havu VK, Jansén CT. Anonychia congenita. Arch Dermatol 1973; 107:752-3.

6.      Mahloudji M, Amidi M. Simple anonychia. Further evidence for autosomal recessive inheritance. J Med Genet 1971; 8:478.





Received on 28.03.2020         Modified on 13.04.2020

Accepted on 29.04.2020 ©A&V Publications All right reserved

Res. J. Pharmacology and Pharmacodynamics.2020; 12(2): 55-56.

DOI: 10.5958/2321-5836.2020.00011.7