Arachnodactyly

An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.

Also Known As:

Networked: 25 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
2.	Megalencephaly
3.	Oligohydramnios
4.	And Genital Anomalies Adrenal Hypoplasia Congenita Metaphyseal Dysplasia Intrauterine Growth Retardation
5.	Marfan Syndrome (Marfan's Syndrome)

Experts

1.	Byers, Peter H: 2 articles (01/2020 - 07/2004)
2.	Behera, Jyoti Ranjan: 1 article (01/2022)
3.	Dash, Arun K: 1 article (01/2022)
4.	Gudu, Ramakrushna: 1 article (01/2022)
5.	Kr, Jishnu: 1 article (01/2022)
6.	Patnaik, Sibabratta: 1 article (01/2022)
7.	Puramjai, Moparthi: 1 article (01/2022)
8.	Rup, Amit R: 1 article (01/2022)
9.	Sahu, Sanjay Kumar: 1 article (01/2022)
10.	Marrache, Majd: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Arachnodactyly:

1.	FibrillinsIBA 08/01/1994 - "A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly." 08/28/1995 - "Significant correlations were found for phenotypic features including arachnodactyly, striae distensae, cardiovascular manifestations, and fibrillin groups II and IV, which included 70% of the MFS patients. " 07/01/1993 - "The fibrillin genes located on chromosomes 15 and 5 are clearly involved in the classic form of Marfan syndrome and a clinically related disorder (congenital contractural arachnodactyly), respectively. " 04/02/1992 - "The Marfan syndrome has been linked to the fibrillin gene on chromosome 15, but congenital contractural arachnodactyly, which shares some of the physical features of the syndrome, has been linked to the fibrillin gene on chromosome 5. Using specific markers for the fibrillin genes, we performed genetic linkage analysis in 28 families with the Marfan syndrome and 8 families with four phenotypically related disorders--congenital contractural arachnodactyly (3 families), ectopia lentis (2), mitral-valve prolapse syndrome (2), and annuloaortic ectasia (1). " 09/01/1992 - "Surprisingly and serendipitously, these studies also revealed genetic heterogeneity of the fibrillin proteins and established linkage between one of these loci and a Marfan-related disorder, congenital contractural arachnodactyly. "
2.	Proteins (Proteins, Gene)FDA Link 09/01/1992 - "Surprisingly and serendipitously, these studies also revealed genetic heterogeneity of the fibrillin proteins and established linkage between one of these loci and a Marfan-related disorder, congenital contractural arachnodactyly. " 01/01/2020 - "Marfan syndrome is characterized by abnormal fibrillin-1 protein and has a broad range of skeletal manifestations, including scoliosis, hindfoot deformity, arachnodactyly, pectus excavatum or carinatum deformity, dural ectasia, and acetabular protrusio. "
3.	OligonucleotidesIBA 05/01/2014 - "Clinical studies revealed not only IMAGe syndrome-compatible phenotypes in cases 1-3, but also hitherto undescribed findings including relative macrocephaly and apparently normal pituitary-gonadal endocrine function in cases 1-3, familial glucocorticoid deficiency (FGD)-like adrenal phenotype and the history of oligohydramnios in case 2, and arachnodactyly in case 3. Sequence analysis of CDKN1C, pyrosequencing-based methylation analysis of KvDMR1 and high-density oligonucleotide array comparative genome hybridization analysis for chromosome 11p15.5 were performed, showing an identical de novo and maternally inherited CDKN1C gain-of-function mutation (p.Asp274Asn) in cases 1 and 2, respectively, and no demonstrable abnormality in case 3. The results of cases 1 and 2 with CDKN1C mutation would argue the following: [1] relative macrocephaly is consistent with maternal expression of CDKN1C in most tissues and biparental expression of CDKN1C in the foetal brain; [2] FGD-like phenotype can result from CDKN1C mutation; and [3] genital abnormalities may primarily be ascribed to placental dysfunction. "
4.	GlucocorticoidsIBA 05/01/2014 - "Clinical studies revealed not only IMAGe syndrome-compatible phenotypes in cases 1-3, but also hitherto undescribed findings including relative macrocephaly and apparently normal pituitary-gonadal endocrine function in cases 1-3, familial glucocorticoid deficiency (FGD)-like adrenal phenotype and the history of oligohydramnios in case 2, and arachnodactyly in case 3. Sequence analysis of CDKN1C, pyrosequencing-based methylation analysis of KvDMR1 and high-density oligonucleotide array comparative genome hybridization analysis for chromosome 11p15.5 were performed, showing an identical de novo and maternally inherited CDKN1C gain-of-function mutation (p.Asp274Asn) in cases 1 and 2, respectively, and no demonstrable abnormality in case 3. The results of cases 1 and 2 with CDKN1C mutation would argue the following: [1] relative macrocephaly is consistent with maternal expression of CDKN1C in most tissues and biparental expression of CDKN1C in the foetal brain; [2] FGD-like phenotype can result from CDKN1C mutation; and [3] genital abnormalities may primarily be ascribed to placental dysfunction. "
5.	Fibrillin-1IBA 07/15/2011 - "After exome sequencing in GD and AD cases, we selected fibrillin 1 (FBN1) as a candidate gene, even though mutations in this gene have been described in Marfan syndrome, which is characterized by tall stature and arachnodactyly. " 07/01/2004 - "Although it has been known for more than a decade that Marfan syndrome - a dominantly inherited connective tissue disorder characterized by tall stature, arachnodactyly, lens subluxation, and a high risk of aortic aneurysm and dissection - results from mutations in the FBN1 gene, which encodes fibrillin-1, the precise mechanism by which the pleiotropic phenotype is produced has been unclear. " 01/01/2004 - "Neonatal Marfan syndrome caused by an exon 25 mutation of the Fibrillin-1 gene: We describe a male infant with severe arachnodactyly, hypermobility of the fingers, flexion contractures of elbows, wrists, hips, and knees, microretrognathia, crumpled ears, rockerbottom feet, loose redundant skin, and lens dislocations. " 09/01/2015 - "Today we know that mutations in fibrillin-1 cause the Marfan syndrome as well as Weill-Marchesani syndrome (and other acromelic dysplasias) and result in opposite clinical phenotypes: tall or short stature; arachnodactyly or brachydactyly; joint hypermobility or stiff joints; hypomuscularity or hypermuscularity. " 04/30/2004 - "Mutations of the fibrillin-1 (FBN1) gene on chromosome 15 have been described in patients with classical Marfan syndrome (MFS), neonatal MFS, the "MASS" phenotype, autosomal dominant ascending aortic aneurysms, autosomal dominant ectopia lentis (EL), Marfanoid skeletal features [Milewicz et al., 1995: J Clin Invest 95:2373-2378], familial arachnodactyly, Shprintzen-Goldberg syndrome [Hayward et al., 1994: Mol Cell Probes 8:325-327; Furthmayr and Francke, 1997: Semin Thorac Cardiovasc Surg 9:191-205], and severe progressive kyphoscoliosis [Adès et al., 2002: Am J Med Genet 109:261-270]. "
6.	Fibrillin-2IBA 07/01/2010 - "Mutations in the fibrillin-2 gene were discovered in individuals with a phenotypically related disorder, congenital contractural arachnodactyly. " 12/01/1995 - "Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly." 03/01/2009 - "This genetic disease is characterized by dolichostenomelia and arachnodactyly, in addition to contractures of the large joints and abnormal pinnae formation, thus indicating the significance of fibrillin-2 in chondrogenesis. "
7.	Methionine (L-Methionine)FDA Link 01/01/2022 - "He was found to have arachnodactyly, hypermobile joints, ectopia lentis, cerebral venous sinus thrombosis (CVST) with very high serum methionine and homocysteine. "
8.	HomocysteineIBA 01/01/2022 - "He was found to have arachnodactyly, hypermobile joints, ectopia lentis, cerebral venous sinus thrombosis (CVST) with very high serum methionine and homocysteine. "
9.	ElementsIBA 06/01/2013 - "Many clinicians regard arachnodactyly as pathognomonic of MFS; however, this view is misleading as arachnodactyly is a key element of the marfanoid habitus, which is present in several heritable disorders of connective tissue (HDCTs). "
10.	DNA (Deoxyribonucleic Acid)IBA 11/01/2015 - "Two frameshift mutations and a donor-splice one caused MSS, while two missense mutations in the DNA binding/dimerisation domain entailed an overgrowth syndrome with some clinical features resembling Sotos syndrome, accompanied by a marfanoid habitus, very low BMI, long narrow face, or arachnodactyly. "

Therapies and Procedures

1.

Lenses 11/01/1947 - "A family showing arachnodactyly with colombata of lenses and choroid." 05/01/1993 - "We report the case of a 16-month-old male with the neonatal appearance of Marfan syndrome (NMS), with dolichocephaly, a long midface, deep-set eyes, arachnodactyly, dislocated lenses and carciovascular abnormalities. " 09/01/1956 - "[Arachnodactyly and ectopy of the crystalline lenses with retinal detachment]." 11/30/1945 - "About a case of arachnodactyly or Marfan disease; With subluxation of both lenses and high myopia." 12/01/1990 - "Other useful clinical findings included arachnodactyly, dolichocephaly, a characteristic facies, a high-arched palate, micrognathia, hyperextensible joints, pes planus, anterior chest deformity, iridodenesis, megalocornea, and dislocated lenses. "