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Absent toenail

MedGen UID:
336719
Concept ID:
C1844555
Congenital Abnormality; Finding
Synonyms: Absent toenails; Absent toenails (anonychia); Anonychia of toenails; Complete absence of all toenails
 
HPO: HP:0001802

Definition

Congenital absence of the toenail. [from HPO]

Conditions with this feature

Focal dermal hypoplasia
MedGen UID:
42055
Concept ID:
C0016395
Disease or Syndrome
Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucoid papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo-/syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, and pointed chin. Occasional findings include dental anomalies, abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment.
Ulna hypoplasia-intellectual disability syndrome
MedGen UID:
341275
Concept ID:
C1848650
Disease or Syndrome
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.
Keipert syndrome
MedGen UID:
338088
Concept ID:
C1850627
Disease or Syndrome
Keipert syndrome (KPTS) is characterized by craniofacial and digital abnormalities and variable learning difficulties. The distinctive facial appearance includes broad forehead, hypertelorism, prominent nose, wide mouth, and prominent upper lip with cupid bow configuration. Digital anomalies are also distinctive, with widening of all distal phalanges, particularly of the thumbs and great toes (Amor et al., 2019).
Fuhrmann syndrome
MedGen UID:
346429
Concept ID:
C1856728
Disease or Syndrome
This syndrome has main characteristics of bowing of the femora, aplasia or hypoplasia of the fibulae and poly, oligo and syndactyly. It has been reported in 11 patients. Most of the patients also had a hypoplastic pelvis and hypoplasia of the fingers and fingernails. Some had congenital dislocation of the hip, absence or fusion of tarsal bones, absence of various metatarsals and hypoplasia and aplasia of the toes. The syndrome is caused by a partial loss of WNT7A function (gene mapped to 3p25).
Autosomal dominant deafness - onychodystrophy syndrome
MedGen UID:
382676
Concept ID:
C2675730
Disease or Syndrome
The DDOD syndrome is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy. Conical, hypoplastic teeth is also a feature (Robinson et al., 1962). See also DOOR syndrome (220500), an autosomal recessive disorder, which includes congenital deafness, onychodystrophy, osteodystrophy, and mental retardation.
Nonsyndromic congenital nail disorder 9
MedGen UID:
481577
Concept ID:
C3279947
Disease or Syndrome
Although nails appear normal at birth, dystrophic changes develop within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails (summary by Rafiq et al., 2004). This disorder is referred to here as nonsyndromic congenital nail disorder-9 (NDNC9). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).
Ectodermal dysplasia 5, hair/nail type
MedGen UID:
767022
Concept ID:
C3554108
Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.
Adams-Oliver syndrome 5
MedGen UID:
863407
Concept ID:
C4014970
Disease or Syndrome
Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.
Zimmermann-laband syndrome 3
MedGen UID:
1684740
Concept ID:
C5231447
Disease or Syndrome
Zimmermann-Laband syndrome-3 (ZLS3) is characterized by developmental delay, intellectual disability, coarse face, gingival hyperplasia, and nail hypoplasia/aplasia (Bauer et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of Zimmermann-Laband syndrome, see ZLS1 (135500).

Professional guidelines

PubMed

Maier D, Jäger M, Strohm PC, Südkamp NP
Acta Chir Orthop Traumatol Cech 2012;79(4):307-16. PMID: 22980928
Ghinea MM
Rom J Intern Med 2004;42(1):225-30. PMID: 15529613
Flynn JC, Richards JF Jr, Saltzman RI
J Bone Joint Surg Am 1975 Dec;57(8):1087-92. PMID: 1201992

Recent clinical studies

Etiology

Shin JO, Roh D, Son JH, Shin K, Kim HS, Ko HC, Kim BS, Kim MB
Int J Dermatol 2022 Mar;61(3):331-336. Epub 2021 Aug 20 doi: 10.1111/ijd.15861. PMID: 34416026
Martinez MA, Gregório CL, Santos VP, Bérgamo RR, Machado Filho CD
An Bras Dermatol 2010 May-Jun;85(3):318-23. doi: 10.1590/s0365-05962010000300004. PMID: 20676464
Itin PH, Fistarol SK
Am J Med Genet C Semin Med Genet 2004 Nov 15;131C(1):45-51. doi: 10.1002/ajmg.c.30033. PMID: 15468153
Sumpio BE, Lee T, Blume PA
Clin Podiatr Med Surg 2003 Oct;20(4):689-708. doi: 10.1016/S0891-8422(03)00088-0. PMID: 14636033
Calderon RA
Crit Rev Microbiol 1989;16(5):339-68. doi: 10.3109/10408418909104472. PMID: 2651010

Diagnosis

Mostmans Y, Richert B, Badot V, Nagant C, Smith V, Michel O
J Eur Acad Dermatol Venereol 2021 Mar;35(3):597-606. Epub 2020 Aug 5 doi: 10.1111/jdv.16813. PMID: 32656859
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
Chou M, Dhingra N, Strugar TL
Dermatitis 2017 Jul/Aug;28(4):231-240. doi: 10.1097/DER.0000000000000301. PMID: 28719472
Phelan MC
Orphanet J Rare Dis 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14. PMID: 18505557Free PMC Article
Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP
Am J Med Genet 2001 Jun 15;101(2):91-9. doi: 10.1002/1096-8628(20010615)101:2<91::aid-ajmg1340>3.0.co;2-c. PMID: 11391650

Therapy

Shin JO, Roh D, Son JH, Shin K, Kim HS, Ko HC, Kim BS, Kim MB
Int J Dermatol 2022 Mar;61(3):331-336. Epub 2021 Aug 20 doi: 10.1111/ijd.15861. PMID: 34416026
Chou M, Dhingra N, Strugar TL
Dermatitis 2017 Jul/Aug;28(4):231-240. doi: 10.1097/DER.0000000000000301. PMID: 28719472
DeBrule MB
J Am Podiatr Med Assoc 2015 Jul;105(4):295-301. doi: 10.7547/13-121.1. PMID: 26218152
Dervis E, Demirkesen C
Int J Dermatol 2006 Sep;45(9):1077-9. doi: 10.1111/j.1365-4632.2004.02490.x. PMID: 16961514
Ghinea MM
Rom J Intern Med 2004;42(1):225-30. PMID: 15529613

Prognosis

Mostmans Y, Richert B, Badot V, Nagant C, Smith V, Michel O
J Eur Acad Dermatol Venereol 2021 Mar;35(3):597-606. Epub 2020 Aug 5 doi: 10.1111/jdv.16813. PMID: 32656859
Witzgall R
Pflugers Arch 2017 Aug;469(7-8):927-936. Epub 2017 Jul 5 doi: 10.1007/s00424-017-2013-z. PMID: 28681095
Harita Y, Kitanaka S, Isojima T, Ashida A, Hattori M
Pediatr Nephrol 2017 Oct;32(10):1845-1850. Epub 2016 Jul 23 doi: 10.1007/s00467-016-3462-x. PMID: 27450397
Phelan MC
Orphanet J Rare Dis 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14. PMID: 18505557Free PMC Article
Witzgall R
Pediatr Nephrol 2008 Jul;23(7):1017-20. Epub 2008 Feb 6 doi: 10.1007/s00467-007-0714-9. PMID: 18253764Free PMC Article

Clinical prediction guides

Boccuto L, Mitz A, Abenavoli L, Sarasua SM, Bennett W, Rogers C, DuPont B, Phelan K
Genes (Basel) 2022 Mar 17;13(3) doi: 10.3390/genes13030528. PMID: 35328081Free PMC Article
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
Topal IO, Gungor S, Kocaturk OE, Duman H, Durmuscan M
An Bras Dermatol 2016 Jul-Aug;91(4):442-5. doi: 10.1590/abd1806-4841.20164620. PMID: 27579738Free PMC Article
Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK
Int J Dermatol 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. PMID: 17472679
Dervis E, Demirkesen C
Int J Dermatol 2006 Sep;45(9):1077-9. doi: 10.1111/j.1365-4632.2004.02490.x. PMID: 16961514

Recent systematic reviews

DeBrule MB
J Am Podiatr Med Assoc 2015 Jul;105(4):295-301. doi: 10.7547/13-121.1. PMID: 26218152

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