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Hypoplastic fingernail

MedGen UID:
347304
Concept ID:
C1856786
Finding
Synonyms: Hypoplastic fingernails; Small fingernails
 
HPO: HP:0001804

Definition

Underdevelopment of a fingernail. [from HPO]

Term Hierarchy

Conditions with this feature

Branchiooculofacial syndrome
MedGen UID:
91261
Concept ID:
C0376524
Disease or Syndrome
The branchiooculofacial syndrome (BOFS) is characterized by: branchial (cervical or infra- or supra-auricular) skin defects that range from barely perceptible thin skin or hair patch to erythematous "hemangiomatous" lesions to large weeping erosions; ocular anomalies that can include microphthalmia, anophthalmia, coloboma, and nasolacrimal duct stenosis/atresia; and facial anomalies that can include ocular hypertelorism or telecanthus, broad nasal tip, upslanted palpebral fissures, cleft lip or prominent philtral pillars that give the appearance of a repaired cleft lip (formerly called "pseudocleft lip") with or without cleft palate, upper lip pits, and lower facial weakness (asymmetric crying face or partial 7th cranial nerve weakness). Malformed and prominent pinnae and hearing loss from inner ear and/or petrous bone anomalies are common. Intellect is usually normal.
Ectrodactyly-ectodermal dysplasia-clefting syndrome
MedGen UID:
98357
Concept ID:
C0406704
Disease or Syndrome
EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).
DOORS syndrome
MedGen UID:
208648
Concept ID:
C0795934
Disease or Syndrome
TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures). Profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability / developmental delay, and seizures. Familial infantile myoclonic epilepsy (FIME). Early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability. Progressive myoclonus epilepsy (PME). Action myoclonus, tonic-clonic seizures, progressive neurologic decline, and ataxia. Early-infantile epileptic encephalopathy 16 (EIEE16). Epileptiform EEG abnormalities which themselves are believed to contribute to progressive disturbance in cerebral function. Autosomal recessive nonsyndromic hearing loss, DFNB86. Profound prelingual deafness. Autosomal dominant nonsyndromic hearing loss, DFNA65. Slowly progressive deafness with onset in the third decade, initially affecting the high frequencies.
Diaphanospondylodysostosis
MedGen UID:
374993
Concept ID:
C1842691
Disease or Syndrome
Diaphanospondylodysostosis is a rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases (summary by Funari et al., 2010).
Onychotrichodysplasia and neutropenia
MedGen UID:
340512
Concept ID:
C1850316
Disease or Syndrome
Beare-Stevenson cutis gyrata syndrome
MedGen UID:
377668
Concept ID:
C1852406
Disease or Syndrome
Beare-Stevenson cutis gyrata syndrome (BSTVS) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities, and early death (summary by Przylepa et al., 1996).
Ablepharon macrostomia syndrome
MedGen UID:
395439
Concept ID:
C1860224
Disease or Syndrome
Ablepharon-macrostomia syndrome (AMS) is a congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth (summary by Marchegiani et al., 2015).
Brachydactyly type B1
MedGen UID:
349432
Concept ID:
C1862112
Congenital Abnormality
A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands.
Fibrochondrogenesis 1
MedGen UID:
479768
Concept ID:
C3278138
Disease or Syndrome
Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Radiographically, the long bones are short and have broad metaphyseal ends, giving them a dumb-bell shape. The vertebral bodies are flat and, on lateral view, have a distinctive pinched appearance, with a hypoplastic posterior end and a rounded anterior end. The ribs are typically short and wide and have metaphyseal cupping at both ends (summary by Tompson et al., 2010). Genetic Heterogeneity of Fibrochondrogenesis Fibrochondrogenesis-2 (FBCG2; 614524) is caused by mutation in the COL11A2 gene (120290) on chromosome 6p21.3.
Hyperphosphatasia with intellectual disability syndrome 2
MedGen UID:
766551
Concept ID:
C3553637
Disease or Syndrome
Hyperphosphatasia with impaired intellectual development syndrome-2 (HPMRS2) is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by Krawitz et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of hyperphosphatasia with impaired intellectual development syndrome, see HPMRS1 (239300). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Weiss-kruszka syndrome
MedGen UID:
1684748
Concept ID:
C5231429
Disease or Syndrome
Weiss-Kruszka syndrome is characterized by metopic ridging or synostosis, ptosis, nonspecific dysmorphic features, developmental delay, and autistic features. Brain imaging may identify abnormalities of the corpus callosum. Developmental delay can present as global delay, motor delay, or speech delay. Affected individuals may also have ear anomalies, feeding difficulties (sometimes requiring placement of a gastrostomy tube), and congenital heart defects. There is significant variability in the clinical features, even between affected members of the same family.
Short stature and microcephaly with genital anomalies
MedGen UID:
1684791
Concept ID:
C5231467
Disease or Syndrome
Short stature and microcephaly with genital anomalies (SSMGA) is characterized by severe growth failure, with extreme short stature, microcephaly, and delayed and dissociated bone age. Global psychomotor developmental delay may be present, although the brain appears structurally normal. Pubertal delay and genital anomalies have been observed (Hung et al., 2017).
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
MedGen UID:
1788511
Concept ID:
C5543496
Disease or Syndrome
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (OORS) is an autosomal recessive syndromic developmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, and hypoplastic terminal phalanges and nails. Patients have seizures or tonic posturing. The disorder is associated with a defect in GPI anchoring of membrane-bound proteins (summary by Salian et al., 2021). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). See also DOORS syndrome (220500), which shows some overlapping clinical features.
Developmental and epileptic encephalopathy 100
MedGen UID:
1809351
Concept ID:
C5676932
Disease or Syndrome
Developmental and epileptic encephalopathy-100 (DEE100) is a severe neurologic disorder characterized by global developmental delay and onset of variable types of seizures in the first months or years of life. Most patients have refractory seizures and show developmental regression after seizure onset. Affected individuals have ataxic gait or inability to walk and severe to profoundly impaired intellectual development, often with absent speech. Additional more variable features may include axial hypotonia, hyperkinetic movements, dysmorphic facial features, and brain imaging abnormalities (summary by Schneider et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.

Professional guidelines

PubMed

Hitzert MM, van der Crabben SN, Baldewsingh G, van Amstel HKP, van den Wijngaard A, van Ravenswaaij-Arts CMA, Zijlmans CWR
Orphanet J Rare Dis 2019 Dec 19;14(1):294. doi: 10.1186/s13023-019-1269-0. PMID: 31856865Free PMC Article
Kosho T, Okamoto N; Coffin-Siris Syndrome International Collaborators
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):262-75. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31407. PMID: 25168959

Recent clinical studies

Etiology

Almashaqbeh SS, Aljammal DS, Alharahsheh HM, Alqudah SF, Alkrimeen RA
Med Arch 2022 Aug;76(4):301-304. doi: 10.5455/medarh.2022.76.301-304. PMID: 36313953Free PMC Article
Nunes MR, Pereira TG, Correia HVD, Canabarro ST, Vanz AP, Zen PRG, Rosa RFM
Sao Paulo Med J 2021 Aug-Sep;139(5):435-442. doi: 10.1590/1516-3180.2020.0470.R2.110321. PMID: 34378742Free PMC Article
Afifi HH, Abdel-Hamid MS, Mehrez MI, El-Kamah G, Abdel-Salam GMH
Am J Med Genet A 2019 Oct;179(10):2039-2042. Epub 2019 Aug 12 doi: 10.1002/ajmg.a.61327. PMID: 31403251
Castori M, Ruggieri S, Giannetti L, Annessi G, Zambruno G
Acta Derm Venereol 2008;88(6):607-12. doi: 10.2340/00015555-0547. PMID: 19002348
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

Diagnosis

Rivera SS, Boese EA, Dumitrescu A
J AAPOS 2023 Dec;27(6):367-368. Epub 2023 Sep 27 doi: 10.1016/j.jaapos.2023.08.006. PMID: 37769987
Almashaqbeh SS, Aljammal DS, Alharahsheh HM, Alqudah SF, Alkrimeen RA
Med Arch 2022 Aug;76(4):301-304. doi: 10.5455/medarh.2022.76.301-304. PMID: 36313953Free PMC Article
Di Bartolomeo L, Di Benedetto A, Giunta L, Guarneri F, Vaccaro M
Pediatr Dermatol 2021 Sep;38(5):1322-1323. doi: 10.1111/pde.14700. PMID: 34750885
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
Singh SK, Bhadada SK, Singh R, Sinha SK, Singh SK, Agrawal JK
J Assoc Physicians India 2000 Aug;48(8):836-7. PMID: 11273483

Therapy

Hoang N, Harper H, Syscos S, Rickstrew J, Kaplan D
Dermatol Online J 2020 Jul 15;26(7) PMID: 32898401
Aizenbud D, Rachmiel A, Emodi O
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2008 Feb;105(2):149-54. doi: 10.1016/j.tripleo.2007.06.018. PMID: 18230386
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Transplantation 2006 Dec 27;82(12):1698-702. doi: 10.1097/01.tp.0000252683.74584.29. PMID: 17198262
Pérgola PE, Kancharla A, Riley DJ
Transplantation 2001 Apr 15;71(7):994-7. doi: 10.1097/00007890-200104150-00028. PMID: 11349738
D'Souza SW, Robertson IG, Donnai D, Mawer G
Arch Dis Child 1991 Mar;66(3):320-4. doi: 10.1136/adc.66.3.320. PMID: 2025009Free PMC Article

Prognosis

Loh AYT, Špoljar S, Neo GYW, Escande-Beillard N, Leushacke M, Luijten MNH, Venkatesh B, Bonnard C, van Steensel MAM, Hamm H, Carmichael A, Rajan N, Carney TJ, Reversade B
Am J Med Genet A 2022 Jun;188(6):1752-1760. Epub 2022 Feb 25 doi: 10.1002/ajmg.a.62703. PMID: 35212137
Slavotinek A, Lefebvre M, Brehin AC, Thauvin C, Patrier S, Sparks TN, Norton M, Yu J, Huang E
Eur J Med Genet 2022 Feb;65(2):104407. Epub 2021 Dec 20 doi: 10.1016/j.ejmg.2021.104407. PMID: 34942405Free PMC Article
Harita Y, Urae S, Akashio R, Isojima T, Miura K, Yamada T, Yamamoto K, Miyasaka Y, Furuyama M, Takemura T, Gotoh Y, Takizawa H, Tamagaki K, Ozawa A, Ashida A, Hattori M, Oka A, Kitanaka S
Eur J Hum Genet 2020 Oct;28(10):1414-1421. Epub 2020 May 26 doi: 10.1038/s41431-020-0655-3. PMID: 32457516Free PMC Article
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
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

Loh AYT, Špoljar S, Neo GYW, Escande-Beillard N, Leushacke M, Luijten MNH, Venkatesh B, Bonnard C, van Steensel MAM, Hamm H, Carmichael A, Rajan N, Carney TJ, Reversade B
Am J Med Genet A 2022 Jun;188(6):1752-1760. Epub 2022 Feb 25 doi: 10.1002/ajmg.a.62703. PMID: 35212137
Slavotinek A, Lefebvre M, Brehin AC, Thauvin C, Patrier S, Sparks TN, Norton M, Yu J, Huang E
Eur J Med Genet 2022 Feb;65(2):104407. Epub 2021 Dec 20 doi: 10.1016/j.ejmg.2021.104407. PMID: 34942405Free PMC Article
Hitzert MM, van der Crabben SN, Baldewsingh G, van Amstel HKP, van den Wijngaard A, van Ravenswaaij-Arts CMA, Zijlmans CWR
Orphanet J Rare Dis 2019 Dec 19;14(1):294. doi: 10.1186/s13023-019-1269-0. PMID: 31856865Free PMC Article
Afifi HH, Abdel-Hamid MS, Mehrez MI, El-Kamah G, Abdel-Salam GMH
Am J Med Genet A 2019 Oct;179(10):2039-2042. Epub 2019 Aug 12 doi: 10.1002/ajmg.a.61327. PMID: 31403251
Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW
Hum Mutat 2009 May;30(5):724-33. doi: 10.1002/humu.20958. PMID: 19338053

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