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Overlapping fingers

MedGen UID:
252954
Concept ID:
C1446712
Finding
HPO: HP:0010557

Definition

A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOverlapping fingers

Conditions with this feature

Arthrogryposis, distal, type 1A
MedGen UID:
113099
Concept ID:
C0220662
Congenital Abnormality
Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). Clubfoot, which is an inward- and upward-turning foot, is also commonly seen with distal arthrogryposis type 1. The specific hand and foot abnormalities vary among affected individuals. However, this condition typically does not cause any signs and symptoms affecting other parts of the body.
Kapur-Toriello syndrome
MedGen UID:
208654
Concept ID:
C0796005
Disease or Syndrome
An extremely rare syndrome with characteristics of facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Only four cases have been reported in the literature, in three unrelated families. Dysmorphic features include bilateral cleft lip and palate, bulbous nasal tip and eye anomalies. The condition seems to be inherited as an autosomal recessive trait.
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
MedGen UID:
332288
Concept ID:
C1836780
Disease or Syndrome
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.
Oto-palato-digital syndrome, type II
MedGen UID:
337064
Concept ID:
C1844696
Disease or Syndrome
The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.
MOGS-congenital disorder of glycosylation
MedGen UID:
342954
Concept ID:
C1853736
Disease or Syndrome
A form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).
Compton-North congenital myopathy
MedGen UID:
393406
Concept ID:
C2675527
Disease or Syndrome
Congenital myopathy-12 (CMYP12) is an autosomal recessive disorder characterized by severe neonatal hypotonia resulting in feeding difficulties and respiratory failure within the first months of life. There is evidence of the disorder in utero, with decreased fetal movements and polyhydramnios. Additional features may include high-arched palate and contractures. Skeletal muscle biopsy shows myopathic changes with disrupted sarcomeres and minicore-like structures (Compton et al., 2008). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
Bone fragility with contractures, arterial rupture, and deafness
MedGen UID:
382811
Concept ID:
C2676285
Disease or Syndrome
Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.
COG7 congenital disorder of glycosylation
MedGen UID:
419311
Concept ID:
C2931010
Disease or Syndrome
CDG IIe is caused by a mutation that impairs the integrity of the conserved oligomeric Golgi (COG) complex and alters Golgi trafficking, resulting in the disruption of multiple glycosylation pathways. For a general discussion of CDGs, see CDG1A (212065).
Severe combined immunodeficiency due to DNA-PKcs deficiency
MedGen UID:
863270
Concept ID:
C4014833
Disease or Syndrome
Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.
MEND syndrome
MedGen UID:
905986
Concept ID:
C4085243
Disease or Syndrome
Male EBP disorder with neurologic defects (MEND) is an X-linked recessive disorder representing a continuous phenotypic spectrum with variable manifestations associated with a defect in sterol biosynthesis. Features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. Not all patients show all features, and the severity is highly variable. Molecular studies indicate that affected males are hemizygous for a nonmosaic hypomorphic EBP allele. Carrier females are generally clinically asymptomatic, but may show biochemical abnormalities (summary by Arnold et al., 2012 and Barboza-Cerda et al., 2014).
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
MedGen UID:
901732
Concept ID:
C4225221
Disease or Syndrome
Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by Niihori et al., 2015). For a discussion of genetic heterogeneity of radioulnar synostosis with amegakaryocytic thrombocytopenia, see RUSAT1 (605432).
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
MedGen UID:
899982
Concept ID:
C4225295
Disease or Syndrome
PI4KA-related disorder is a clinically variable disorder characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria.
MIRAGE syndrome
MedGen UID:
924576
Concept ID:
C4284088
Disease or Syndrome
MIRAGE syndrome is an acronym for the major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. Cytopenias are typically seen soon after birth; thrombocytopenia is the most common followed by anemia and pancytopenia. Recurrent infections from early infancy include pneumonia, urinary tract infection, gastroenteritis, meningitis, otitis media, dermatitis, subcutaneous abscess, and sepsis. Reported genital phenotypes in those with 46,XY karyotype included hypospadias, microphallus, bifid shawl scrotum, ambiguous genitalia, or complete female genitalia. Hypoplastic or dysgenetic ovaries have been reported in females. Gastrointestinal complications include chronic diarrhea and esophageal dysfunction. Moderate-to-severe developmental delay is reported in most affected individuals. Autonomic dysfunction and renal dysfunction are also reported.
Alkuraya-Kucinskas syndrome
MedGen UID:
1634304
Concept ID:
C4693347
Disease or Syndrome
ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
MedGen UID:
1648412
Concept ID:
C4748348
Disease or Syndrome
MFRG is an autosomal recessive syndrome in which microcephaly, unilateral renal agenesis, ambiguous genitalia, and facial dysmorphisms, including severe micrognathia, are observed in most patients. Variable brain, cardiac, and skeletal anomalies are present, including corpus callosum agenesis or dysgenesis, lissencephaly, atrial and ventricular septal defects, patent ductus arteriosus, hypoplastic right ventricle, and joint contractures (Shaheen et al., 2016).
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
MedGen UID:
1648332
Concept ID:
C4748496
Disease or Syndrome
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018).
Pontocerebellar hypoplasia, type 12
MedGen UID:
1648343
Concept ID:
C4748873
Disease or Syndrome
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
MedGen UID:
1648362
Concept ID:
C4749003
Disease or Syndrome
SMALED2B is a severe neuromuscular disorder with onset in utero. Affected individuals show decreased fetal movements and are usually born with congenital contractures consistent with arthrogryposis multiplex congenita (AMC). After birth, they have severe hypotonia and muscle atrophy as well as respiratory insufficiency due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Many patients die in early childhood (summary by Storbeck et al., 2017) For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (158600).
Fetal akinesia deformation sequence 3
MedGen UID:
1680087
Concept ID:
C4760599
Disease or Syndrome
The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism (Vogt et al., 2009). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see 253290). For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150.
Intellectual developmental disorder with cardiac defects and dysmorphic facies
MedGen UID:
1675627
Concept ID:
C5193024
Disease or Syndrome
IDDCDF is an autosomal recessive syndromic neurodevelopmental disorder characterized by globally impaired development with intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Additional features, such as distal skeletal anomalies, may also be observed (Stephen et al., 2018).
Arthrogryposis, distal, type 2B2
MedGen UID:
1674500
Concept ID:
C5193097
Disease or Syndrome
Distal arthrogryposis type 2B2 (DA2B2) is characterized by congenital contractures of the distal limb joints and facial dysmorphism. Marked inter- and intrafamilial variability has been reported (summary by Daly et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see 108120.
Arthrogryposis, distal, type 2B3
MedGen UID:
1676839
Concept ID:
C5193098
Disease or Syndrome
Distal arthrogryposis type 2B3 (DA2B3) is characterized by facial dysmorphism and congenital joint contractures with predominantly distal involvement. Some patients exhibit muscle weakness (Tajsharghi et al., 2008). Considerable inter- and intrafamilial variability has been reported (Xu et al., 2018).
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
MedGen UID:
1674629
Concept ID:
C5193125
Disease or Syndrome
ATN1-related neurodevelopmental disorder (ATN1-NDD) is characterized by developmental delay / intellectual disability. Other neurologic findings can include infantile hypotonia, brain malformations, epilepsy, cortical visual impairment, and hearing loss. Feeding difficulties, present in some individuals, may require gastrostomy support when severe; similarly, respiratory issues, present in some, may require respiratory support after the neonatal period. Distinctive facial features and hand and foot differences are common. Other variable findings can include cardiac malformations and congenital anomalies of the kidney and urinary tract (CAKUT). To date, 18 individuals with ATN1-NDD have been identified.
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
MedGen UID:
1764743
Concept ID:
C5436530
Disease or Syndrome
Congenital myopathy-17 (CMYP17) is an autosomal recessive muscle disorder. Affected individuals present at birth with hypotonia and respiratory insufficiency associated with high diaphragmatic dome on imaging. Other features include poor overall growth, pectus excavatum, dysmorphic facies, and renal anomalies in some. The severity of the disorder is highly variable: some patients may have delayed motor development with mildly decreased endurance, whereas others have more severe hypotonia associated with distal arthrogryposis and lung hypoplasia, resulting in early death (summary by Watson et al., 2016 and Lopes et al., 2018). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
Deeah syndrome
MedGen UID:
1756624
Concept ID:
C5436579
Disease or Syndrome
DEEAH syndrome is an autosomal recessive multisystemic disorder with onset in early infancy. Affected individuals usually present in the perinatal period with respiratory insufficiency, apneic episodes, and generalized hypotonia. The patients have failure to thrive and severely impaired global development with poor acquisition of motor, cognitive, and language skills. Other common features include endocrine, pancreatic exocrine, and autonomic dysfunction, as well as hematologic disturbances, mainly low hemoglobin. Patients also have dysmorphic and myopathic facial features. Additional more variable features include seizures, undescended testes, and distal skeletal anomalies. Death in early childhood may occur (summary by Schneeberger et al., 2020).
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
MedGen UID:
1788942
Concept ID:
C5542341
Disease or Syndrome
X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. Pathogenetically, the disorder results from disrupted gene expression and signaling during embryogenesis, thus affecting multiple systems (summary by Tripolszki et al., 2021 and Beck et al., 2021). Beck et al. (2021) referred to the disorder as LINKED syndrome (LINKage-specific deubiquitylation deficiency-induced Embryonic Defects).
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
MedGen UID:
1780615
Concept ID:
C5543591
Disease or Syndrome
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities (NEDHFBA) is an autosomal recessive neurologic syndrome characterized by global developmental delay with severely impaired intellectual development, hypotonia and muscle weakness, often resulting in the inability to walk or sit, and characteristic coarse facial features. Additional features include feeding difficulties, respiratory distress, scoliosis, poor visual function, and rotary nystagmus. Brain imaging shows variable abnormalities, including enlarged ventricles, decreased white matter volume, white matter changes, thin corpus callosum, and cerebellar hypoplasia (summary by Loddo et al., 2020).
NEK9-related lethal skeletal dysplasia
MedGen UID:
1799564
Concept ID:
C5568141
Disease or Syndrome
A rare lethal primary bone dysplasia with characteristics of fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.
Gastrointestinal defects and immunodeficiency syndrome 2
MedGen UID:
1811526
Concept ID:
C5676901
Disease or Syndrome
PI4KA-related disorder is a clinically variable disorder characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria.

Professional guidelines

PubMed

Esteban Lopez LMJ, Hoogendam L, Vermeulen GM, Tsehaie J, Slijper HP, Selles RW, Wouters RM; The Hand-Wrist Study Group
J Bone Joint Surg Am 2023 Dec 6;105(23):1837-1845. Epub 2023 Oct 30 doi: 10.2106/JBJS.22.01116. PMID: 37903291Free PMC Article
Hughes M, Huang S, Pauling JD, Sabbagh M, Khanna D
Arthritis Care Res (Hoboken) 2021 Dec;73(12):1845-1852. doi: 10.1002/acr.24710. PMID: 34057304
Mourad A, Gniadecki R
J Rheumatol 2020 Jan;47(1):59-65. Epub 2019 Mar 1 doi: 10.3899/jrheum.180797. PMID: 30824641

Recent clinical studies

Etiology

AlMatrifi FR, Al-Shammari AA, Al Nefily RM, AlAnazi RA, Abdulwahab AH, Ammar AS
Med Arch 2023;77(4):319-322. doi: 10.5455/medarh.2023.77.319-322. PMID: 37876568Free PMC Article
Chruściak M, Kowalik I, Chruściak T, Wisłowska M
Curr Rheumatol Rev 2023;19(1):83-92. doi: 10.2174/1573397118666220819154605. PMID: 35986529
Shi Y, Zhang B, Kong F, Li X
Medicine (Baltimore) 2018 Jul;97(29):e11471. doi: 10.1097/MD.0000000000011471. PMID: 30024522Free PMC Article
Rosa RF, Rosa RC, Lorenzen MB, Zen PR, Oliveira CA, Graziadio C, Paskulin GA
J Pediatr (Rio J) 2012 Sep-Oct;88(5):401-5. Epub 2012 Sep 22 doi: 10.2223/JPED.2212. PMID: 23002079
Hall JG, Reed SD, Greene G
Am J Med Genet 1982 Feb;11(2):185-239. doi: 10.1002/ajmg.1320110208. PMID: 7039311

Diagnosis

Kotani T, Tsuda H, Ito Y, Nakamura N, Ushida T, Imai K, Iitani Y, Fuma K, Muramatsu Y, Hayakawa M, Kajiyama H
J Med Case Rep 2022 Dec 27;16(1):481. doi: 10.1186/s13256-022-03713-z. PMID: 36572904Free PMC Article
Shi Y, Zhang B, Kong F, Li X
Medicine (Baltimore) 2018 Jul;97(29):e11471. doi: 10.1097/MD.0000000000011471. PMID: 30024522Free PMC Article
Kannan TP, Hemlatha S, Ankathil R, Zilfalil BA
Indian J Pediatr 2009 Jul;76(7):745-6. Epub 2009 May 27 doi: 10.1007/s12098-009-0158-2. PMID: 19475342
Kivuva EC, Parker MJ, Cohen MC, Wagner BE, Sobey G
Clin Dysmorphol 2008 Apr;17(2):99-107. doi: 10.1097/MCD.0b013e3282f4a964. PMID: 18388779
Santolaya-Forgas J, De Leon J, Powell WC, Tonk V
Prenat Diagn 2004 Mar;24(3):209-12. doi: 10.1002/pd.830. PMID: 15057955

Therapy

Shi Y, Zhang B, Kong F, Li X
Medicine (Baltimore) 2018 Jul;97(29):e11471. doi: 10.1097/MD.0000000000011471. PMID: 30024522Free PMC Article

Prognosis

AlMatrifi FR, Al-Shammari AA, Al Nefily RM, AlAnazi RA, Abdulwahab AH, Ammar AS
Med Arch 2023;77(4):319-322. doi: 10.5455/medarh.2023.77.319-322. PMID: 37876568Free PMC Article
Shi Y, Zhang B, Kong F, Li X
Medicine (Baltimore) 2018 Jul;97(29):e11471. doi: 10.1097/MD.0000000000011471. PMID: 30024522Free PMC Article
McPadden J, Helm BM, Spangler BB, Ross LP, Boles DB, Schrier Vergano SA
Am J Med Genet A 2015 Apr;167A(4):821-5. Epub 2015 Mar 3 doi: 10.1002/ajmg.a.36958. PMID: 25736076
Kannan TP, Hemlatha S, Ankathil R, Zilfalil BA
Indian J Pediatr 2009 Jul;76(7):745-6. Epub 2009 May 27 doi: 10.1007/s12098-009-0158-2. PMID: 19475342
Hall JG, Reed SD, Greene G
Am J Med Genet 1982 Feb;11(2):185-239. doi: 10.1002/ajmg.1320110208. PMID: 7039311

Clinical prediction guides

Batinović E, Papazovska Cherepnalkovski A, Lozić B, Brajković L, Zanchi I, Pavlov V, Bucat M
Acta Medica (Hradec Kralove) 2023;66(1):32-36. doi: 10.14712/18059694.2023.13. PMID: 37384808
Chruściak M, Kowalik I, Chruściak T, Wisłowska M
Curr Rheumatol Rev 2023;19(1):83-92. doi: 10.2174/1573397118666220819154605. PMID: 35986529
Sfontouris IA, Lainas GT, Lainas TG, Faros E, Banti M, Kardara K, Anagnostopoulou K, Kontos H, Petsas GK, Kolibianakis EM
Syst Biol Reprod Med 2018 Aug;64(4):283-290. Epub 2018 May 2 doi: 10.1080/19396368.2018.1466375. PMID: 29718716
Rosa RF, Rosa RC, Lorenzen MB, Zen PR, Oliveira CA, Graziadio C, Paskulin GA
J Pediatr (Rio J) 2012 Sep-Oct;88(5):401-5. Epub 2012 Sep 22 doi: 10.2223/JPED.2212. PMID: 23002079
Kannan TP, Hemlatha S, Ankathil R, Zilfalil BA
Indian J Pediatr 2009 Jul;76(7):745-6. Epub 2009 May 27 doi: 10.1007/s12098-009-0158-2. PMID: 19475342

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