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Contracture of the proximal interphalangeal joint of the 3rd finger

MedGen UID:
867109
Concept ID:
C4021467
Anatomical Abnormality
Synonyms: Camptodactyly of the 3rd finger; Camptodactyly of the third finger
 
HPO: HP:0009471

Definition

Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVContracture of the proximal interphalangeal joint of the 3rd finger

Conditions with this feature

Chromosome 17P13.3, telomeric, duplication syndrome
MedGen UID:
390813
Concept ID:
C2675492
Disease or Syndrome
Bone fragility with contractures, arterial rupture, and deafness
MedGen UID:
382811
Concept ID:
C2676285
Disease or Syndrome
BCARD syndrome is an autosomal recessive connective tissue disorder characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness. Affected individuals also exhibit recognizable craniofacial dysmorphisms, and variable skin features have been observed, including reduced palmar creases, soft skin with easy bruising, and blistering. Developmental delay, which is present in most patients, may be attributable to sensory deficits or medical complications (Ewans et al., 2019).
Periventricular nodular heterotopia 7
MedGen UID:
934636
Concept ID:
C4310669
Disease or Syndrome
Periventricular nodular heterotopia-7 (PVNH7) is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see 300049.
Ehlers-Danlos syndrome, arthrochalasia type
MedGen UID:
1645042
Concept ID:
C4551623
Disease or Syndrome
Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). Genetic Heterogeneity of Arthrochalasia-type Ehlers-Danlos Syndrome See EDSARTH2 (617821), caused by mutation in the COL1A2 gene (120160).
Vertebral anomalies and variable endocrine and T-cell dysfunction
MedGen UID:
1648299
Concept ID:
C4748741
Disease or Syndrome
Vertebral anomalies and variable endocrine and T-cell dysfunction is a syndrome characterized by an overlapping spectrum of features. Skeletal malformations primarily involve the vertebrae, and endocrine abnormalities involving parathyroid hormone (PTH; 168450), growth hormone (GH1; 139250), and the thyroid gland have been reported. T-cell abnormalities have been observed, with some patients showing thymus gland aplasia or hypoplasia. Patients have mild craniofacial dysmorphism, and some show developmental delay or behavioral problems. Cardiac defects may be present (Liu et al., 2018).
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
MedGen UID:
1708832
Concept ID:
C5393312
Disease or Syndrome
Developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85) is an X-linked neurologic disorder characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features. The seizures tend to show a cyclic pattern with clustering. Many patients have midline brain defects on brain imaging, including thin corpus callosum and/or variable forms of holoprosencephaly (HPE). The severity and clinical manifestations are variable. Almost all reported patients are females with de novo mutations predicted to result in a loss of function (LOF). However, some patients may show skewed X inactivation, and the pathogenic mechanism may be due to a dominant-negative effect. The SMC1A protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; DEE85 can thus be classified as a 'cohesinopathy' (summary by Symonds et al., 2017 and Kruszka et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.

Recent clinical studies

Etiology

Sahatçiu-Meka V, Izairi R, Rexhepi S, Manxhuka-Kerliu S
Reumatizam 2009;56(1):8-16. PMID: 20945622
Slama G, Letanoux M, Thibult N, Goldgewicht C, Eschwege E, Tchobroutsky G
Diabetes Care 1985 Jul-Aug;8(4):329-32. doi: 10.2337/diacare.8.4.329. PMID: 4042798

Diagnosis

Slama G, Letanoux M, Thibult N, Goldgewicht C, Eschwege E, Tchobroutsky G
Diabetes Care 1985 Jul-Aug;8(4):329-32. doi: 10.2337/diacare.8.4.329. PMID: 4042798

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