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Flexion contracture of toe

MedGen UID:
237248
Concept ID:
C1406835
Finding
Synonyms: Contractures of toes; Flexion contractures of the toes; Flexion contractures of toes; Toe contractures
 
HPO: HP:0005830

Definition

One or more bent (flexed) toe joints that cannot be straightened actively or passively. [from HPO]

Conditions with this feature

Freeman-Sheldon syndrome
MedGen UID:
120516
Concept ID:
C0265224
Disease or Syndrome
Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).
Osteopathia striata with cranial sclerosis
MedGen UID:
96590
Concept ID:
C0432268
Disease or Syndrome
Most females with osteopathia striata with cranial sclerosis (OS-CS) present with macrocephaly and characteristic facial features (frontal bossing, hypertelorism, epicanthal folds, depressed nasal bridge, and prominent jaw). Approximately half have associated features including orofacial clefting and hearing loss, and a minority have some degree of developmental delay (usually mild). Radiographic findings of cranial sclerosis, sclerosis of long bones, and metaphyseal striations (in combination with macrocephaly) can be considered pathognomonic. Males can present with a mild or severe phenotype. Mildly affected males have clinical features similar to affected females, including macrocephaly, characteristic facial features, orofacial clefting, hearing loss, and mild-to-moderate learning delays. Mildly affected males are more likely than females to have congenital or musculoskeletal anomalies. Radiographic findings include cranial sclerosis and sclerosis of the long bones; Metaphyseal striations are more common in males who are mosaic for an AMER1 pathogenic variant. The severe phenotype manifests in males as a multiple-malformation syndrome, lethal in mid-to-late gestation, or in the neonatal period. Congenital malformations include skeletal defects (e.g., polysyndactyly, absent or hypoplastic fibulae), congenital heart disease, and brain, genitourinary, and gastrointestinal anomalies. Macrocephaly is not always present and longitudinal metaphyseal striations have not been observed in severely affected males, except for those who are mosaic for the AMER1 pathogenic variant.
Cerebrooculofacioskeletal syndrome 4
MedGen UID:
342798
Concept ID:
C1853100
Disease or Syndrome
Cerebrooculofacioskeletal syndrome-4 (COFS4) is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by Jaspers et al., 2007 and Kashiyama et al., 2013). For a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see 214150.
H syndrome
MedGen UID:
400532
Concept ID:
C1864445
Disease or Syndrome
The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC was described as an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (612373) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012).
Weill-Marchesani syndrome 2, dominant
MedGen UID:
358388
Concept ID:
C1869115
Disease or Syndrome
Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.
Rienhoff syndrome
MedGen UID:
816342
Concept ID:
C3810012
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Schwartz-Jampel syndrome type 1
MedGen UID:
1647990
Concept ID:
C4551479
Disease or Syndrome
Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. Affected individuals usually present in childhood with permanent muscle stiffness or bone deformities. Common clinical features include mask-like facies (narrow palpebral fissures, blepharospasm, and pursed lips); permanent muscle stiffness with continuous skeletal muscle activity recorded on electromyography; dwarfism; pectus carinatum; kyphoscoliosis; bowing of long bones; and epiphyseal, metaphyseal, and hip dysplasia. The disorder is slowly progressive but does not appear to alter life span (summary by Stum et al., 2006).
Proteasome-associated autoinflammatory syndrome 1
MedGen UID:
1648310
Concept ID:
C4746851
Disease or Syndrome
This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome See also PRAAS2 (618048), caused by mutation in the POMP gene (613386) on chromosome 13q12; PRAAS3 (617591), caused by mutation in the PSMB4 gene (602177) on chromosome 1q21; PRAAS4 (619183), caused by mutation in the PSMG2 gene (609702) on chromosome 18p11; and PRAAS5 (619175), caused by mutation in the PSMB10 gene (176847) on chromosome 16q22.
Blau syndrome
MedGen UID:
1684759
Concept ID:
C5201146
Disease or Syndrome
Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).
Neurodevelopmental disorder with seizures and gingival overgrowth
MedGen UID:
1784299
Concept ID:
C5543395
Disease or Syndrome
Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO) is an autosomal recessive disorder with a highly variable phenotype. Some patients have early normal development with developmental regression apparent in the first years of life, whereas others present with hypotonia or delayed development. Most patients develop significant gingival hypertrophy associated with a prominent mandible or cherubism in the first years of life. Other more variable features may include coarse facial features, optic atrophy, sensorineural hearing loss, ataxia, and seizures. Brain imaging may show cerebellar or cerebral atrophy and enlarged ventricles. There is a wide phenotypic spectrum with features that may develop with age; the disorder appears to comprise a continuum of evolving neurologic manifestations (Harms et al., 2020).
Faundes-Banka syndrome
MedGen UID:
1782083
Concept ID:
C5543554
Disease or Syndrome
Faundes-Banka syndrome (FABAS) is an autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features (Faundes et al., 2021).
Stüve-Wiedemann syndrome 1
MedGen UID:
1803541
Concept ID:
C5676888
Disease or Syndrome
Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, respiratory distress, and feeding difficulties usually resulting in early death (Dagoneau et al., 2004). See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36. Genetic Heterogeneity of Stuve-Wiedemann Syndrome Stuve-Wiedemann syndrome-2 (STWS2; 619751) is caused by mutation in the IL6ST gene (600694) on chromosome 5q11.

Professional guidelines

PubMed

Mansur H, Lucas PPA, Maranho DA
Foot Ankle Spec 2024 Feb;17(1_suppl):6S-12S. Epub 2023 Dec 20 doi: 10.1177/19386400231218338. PMID: 38124260
Kedem P, Scher DM
Curr Opin Pediatr 2016 Feb;28(1):55-9. doi: 10.1097/MOP.0000000000000316. PMID: 26709688
Bleck EE
Foot Ankle 1984 Jan-Feb;4(4):188-94. doi: 10.1177/107110078400400405. PMID: 6714860

Recent clinical studies

Etiology

Jacquot R, Jouret M, Valentin MG, Richard M, Jamilloux Y, Rousset F, Emile JF, Haroche J, Steinmüller L, Zekre F, Phan A, Belot A, Seve P
Front Immunol 2023;14:1061182. Epub 2023 Aug 11 doi: 10.3389/fimmu.2023.1061182. PMID: 37638031Free PMC Article
Polichetti C, Greco T, Inverso M, Maccauro G, Forconi F, Perisano C
Medicina (Kaunas) 2022 Aug 10;58(8) doi: 10.3390/medicina58081072. PMID: 36013539Free PMC Article
Brigo F, Lorusso L; Study Group on the History of Neurology of the Italian Neurological Society
Neurol Sci 2022 Mar;43(3):2145-2148. Epub 2021 Jul 2 doi: 10.1007/s10072-021-05438-1. PMID: 34213698
van Bemmel AF, van de Graaf VA, van den Bekerom MP, Vergroesen DA
Musculoskelet Surg 2014 Aug;98(2):87-93. Epub 2014 Jan 12 doi: 10.1007/s12306-013-0309-5. PMID: 24415128
Chang JB, Kung TA, Levi B, Irwin T, Kadakia A, Cederna PS
J Burn Care Res 2014 Jan-Feb;35(1):93-101. doi: 10.1097/BCR.0b013e3182a368fc. PMID: 24390110

Diagnosis

Jacquot R, Jouret M, Valentin MG, Richard M, Jamilloux Y, Rousset F, Emile JF, Haroche J, Steinmüller L, Zekre F, Phan A, Belot A, Seve P
Front Immunol 2023;14:1061182. Epub 2023 Aug 11 doi: 10.3389/fimmu.2023.1061182. PMID: 37638031Free PMC Article
Polichetti C, Greco T, Inverso M, Maccauro G, Forconi F, Perisano C
Medicina (Kaunas) 2022 Aug 10;58(8) doi: 10.3390/medicina58081072. PMID: 36013539Free PMC Article
Kedem P, Scher DM
Curr Opin Pediatr 2016 Feb;28(1):55-9. doi: 10.1097/MOP.0000000000000316. PMID: 26709688
Brites MM, Moreno A, Salgado M, Batista AP
Eur J Dermatol 1998 Jul-Aug;8(5):355-6. PMID: 9683871
Izzo KL, Aravabhumi S
Clin Podiatr Med Surg 1989 Oct;6(4):745-59. PMID: 2680040

Therapy

Lorentzen J, Kirk H, Fernandez-Lago H, Frisk R, Scharff Nielsen N, Jorsal M, Nielsen JB
Disabil Rehabil 2017 May;39(10):987-993. Epub 2016 May 30 doi: 10.1080/09638288.2016.1174745. PMID: 27237772
Boeckx W, Misani M, Vandermeeren L, Franck D, Zirak C, Demey A
J Reconstr Microsurg 2014 May;30(4):235-40. Epub 2014 Mar 28 doi: 10.1055/s-0033-1354735. PMID: 24683134
Trnka HJ, Nyska M, Parks BG, Myerson MS
Foot Ankle Int 2001 Jan;22(1):47-50. doi: 10.1177/107110070102200107. PMID: 11206822
Takakura Y, Yajima H, Tanaka Y, Komeda T, Tamai S
J Bone Joint Surg Am 2000 Jan;82(1):58-61. doi: 10.2106/00004623-200001000-00007. PMID: 10653084
Bohay DR, Manoli A 2nd
Foot Ankle Int 1995 Oct;16(10):607-9. doi: 10.1177/107110079501601004. PMID: 8574370

Prognosis

Ong CF, Geijtenbeek T, Hicks JL, Delp SL
PLoS Comput Biol 2019 Oct;15(10):e1006993. Epub 2019 Oct 7 doi: 10.1371/journal.pcbi.1006993. PMID: 31589597Free PMC Article
Yasui Y, Takao M, Miyamoto W, Matsushita T
J Orthop Sci 2016 May;21(3):395-8. Epub 2015 Jun 29 doi: 10.1016/j.jos.2015.06.003. PMID: 26740438
Reinker KA, Stevenson DA, Tsung A
J Pediatr Orthop 2011 Jul-Aug;31(5):599-605. doi: 10.1097/BPO.0b013e318220396e. PMID: 21654472
Karol LA, Chambers C, Popejoy D, Birch JG
J Pediatr Orthop 2008 Oct-Nov;28(7):773-6. doi: 10.1097/BPO.0b013e318186bdbb. PMID: 18812906
Izzo KL, Aravabhumi S
Clin Podiatr Med Surg 1989 Oct;6(4):745-59. PMID: 2680040

Clinical prediction guides

Polichetti C, Greco T, Inverso M, Maccauro G, Forconi F, Perisano C
Medicina (Kaunas) 2022 Aug 10;58(8) doi: 10.3390/medicina58081072. PMID: 36013539Free PMC Article
Ong CF, Geijtenbeek T, Hicks JL, Delp SL
PLoS Comput Biol 2019 Oct;15(10):e1006993. Epub 2019 Oct 7 doi: 10.1371/journal.pcbi.1006993. PMID: 31589597Free PMC Article
Wang XJ, Chang F, Su Y, Chen B, Song JF, Wei XC, Wei L
ANZ J Surg 2017 Oct;87(10):815-819. Epub 2017 Aug 16 doi: 10.1111/ans.14123. PMID: 28815843Free PMC Article
van Bemmel AF, van de Graaf VA, van den Bekerom MP, Vergroesen DA
Musculoskelet Surg 2014 Aug;98(2):87-93. Epub 2014 Jan 12 doi: 10.1007/s12306-013-0309-5. PMID: 24415128
Raphael SA, Blau EB, Zhang WH, Hsu SH
Am J Dis Child 1993 Aug;147(8):842-8. doi: 10.1001/archpedi.1993.02160320044017. PMID: 8394645

Recent systematic reviews

van Bemmel AF, van de Graaf VA, van den Bekerom MP, Vergroesen DA
Musculoskelet Surg 2014 Aug;98(2):87-93. Epub 2014 Jan 12 doi: 10.1007/s12306-013-0309-5. PMID: 24415128

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