Arachnodactyly: Causes & Reasons

Possible Causes for Arachnodactyly

Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence [fpnotebook.com]

The girl presented at the age of 13 years with macrocytic anaemia, cognitive regression and Marfanoid features such as increased arm-span, arachnodactyly, joint hyperlaxity [ncbi.nlm.nih.gov]

The two diseases are clinically similar but florid arachnodactyly and scoliosis are commoner in Marfan's syndrome, whereas widening of epiphyses and metaphyses of long bones [online.boneandjoint.org.uk]

Marfan Syndrome

Marfan syndrome, also called arachnodactyly, rare hereditary connective tissue disorder that affects most notably the skeleton, heart, and eyes. [britannica.com]

However, note that the hand at the left demonstrates arachnodactyly. [medgen.genetics.utah.edu]

[…] long arm span (often exceeding the height of the patient) joint laxity resulting in recurrent dislocations spine/skull high arched palate kyphoscoliosis scaphocephaly hands arachnodactyly [radiopaedia.org]

Papillon Lefevre Disease

In some patients, arachnodactyly has also been reported. [jamanetwork.com]

The additional findings of Haim Munk Syndrome include onychogryphosis, arachnodactyly, acral osteolysis and pes planus. [onlinelibrary.wiley.com]

Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acro-osteolysis [semanticscholar.org]

Tel Hashomer Camptodactyly Syndrome

Congenital contractural arachnodactyly shares skeletal features with Marfan syndrome (MFS) such as marfanoid habitus, arachnodactyly, camptodactyly and kyphoscoliosis. [caribbean.scielo.org]

Congenital contractural arachnodactyly Congenital Contractural Arachnodactyly (CCA, Beals syndrome) is a rare congenital connective tissue disorder. [howlingpixel.com]

Congenital contractural arachnodactyly (Beals syndrome). Orphanet J Rare Dis 2006; 1: 20. 9. Patel ZM, Adhia RA. [caribbean.scielo.org]

Goldberg-Shprintzen Syndrome

The radiological features were characterized by late-onset craniosynostosis, arachnodactyly, undermodeling of short tubular bones, mildly undermodeled and slightly bowed long [link.springer.com]

A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. [scielo.br]

Arachnodactyly, hypermobility of joints, skin laxity, and pectus excavatum were also noted. [koreascience.kr]

Malignant Hyperthermia - Arthrogryposis - Torticollis

[…] arthrogryposis multiplex congenita 59 32 hallmark (90%) Very frequent (99-80%) HP:0002804 22 prominent nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000426 23 arachnodactyly [malacards.org]

[…] circulating creatine kinase concentration Abnormal levels of creatine kinase in blood 0040081 Abnormal lactate dehydrogenase activity 0045040 Amniotic constriction ring 0009775 Arachnodactyly [rarediseases.info.nih.gov]

[…] web neck Mental retardation Buenos Aires type Mental retardation cataracts calcified pinnae myopathy Mental retardation coloboma slimness Mental retardation contractural arachnodactyly [academickids.com]

Melhem-Fahl Syndrome

[…] thumb Mental deficiency-epilepsy-endocrine disorders Mental mixed retardation deafnes clubbed digits Mental retardation anophthalmia craniosynostosis Mental retardation arachnodactyly [en.wikipedia.org]

[…] retardation blepharophimosis obesity web neck Mental retardation cataracts calcified pinnae myopathy Mental retardation coloboma slimness Mental retardation contractural arachnodactyly [mindmappedia.com]

Arthrogryposis Syndrome

This site is intended for healthcare professionals General Practice Notebook Beal's Syndrome is also known as congenital contractural arachnodactyly. [gpnotebook.co.uk]

Summary Distal arthrogryposis type 9 ( DA9 – also known as congenital contractural arachnodactyly or Beals / Beals-Hecht syndrome ) is caused by heterozygous mutation in the [bredagenetics.com]

Distal, Type 1B ◦ Arthrogryposis, Distal, Type 2A ◦ Arthrogryposis, Distal, Type 3 ◦ Arthrogryposis, Distal, Type 5D ◦ Carney Complex Variant ◦ Congenital Contractural Arachnodactyly [genetests.org]

Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

[…] arthrogryposis ) are common scoliosis variable other features include intrauterine death congenital respiratory distress short stature faciocranial dysmorphism ptosis low-set ears arachnodactyly [anvita.info]

Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism [uniprot.org]

[…] fissures Downturned corners of mouth Epicanthal fold High palate Long face Long philtrum Narrow mouth Short neck Triangular mouth Abnormality of limbs Acetabular dysplasia Arachnodactyly [ncbi.nlm.nih.gov]

Congenital Contractural Arachnodactyly

Congenital contractural arachnodactyly is a rare autosomal dominant connective tissue disorder characterized by congenital flexion contractures, arachnodactyly, camptodactyly [symptoma.com]

[…] and toes (arachnodactyly). [ncbi.nlm.nih.gov]

Congenital contractural arachnodactyly in cattle [en.wikipedia.org]

Ectopia Lentis

arachnodactyly, scoliosis, and a distinct "crumpled ear" deformity. [ncbi.nlm.nih.gov]

[…] syndrome in which the hereditary or familial features were marked, and because of the peculiar long, thin and tapered, clawlike finger-ends he suggested the present name arachnodactyly [jamanetwork.com]

In the examination: look for signs of Marfan's syndrome (superior nasal subluxation of the lens, arachnodactyly, high arch palate and arm span longer than height) rarely the [mrcophth.com]

Myelocerebellar Disorder

* Mental retardation Buenos Aires type * Mental retardation cataracts calcified pinnae myopathy * Mental retardation coloboma slimness * Mental retardation contractural arachnodactyly [en.academic.ru]

[…] disorders Mental mixed retardation deafnes clubbed digits Mental r Mental retardation a-Mental retardation m Mental retardation anophthalmia craniosynostosis Mental retardation arachnodactyly [academickids.com]

Postaxial Oligodactyly, Tetramelic

Dysplasia + Acropectoral Syndrome Acropectorovertebral Dysplasia Adams-Oliver syndrome + ADULT syndrome Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence Arachnodactyly [crrd.mcw.edu]

[…] syndactyly Small for gestational age Brachydactyly Generalized hypotonia Broad foot Spinal canal stenosis Muscle weakness Hyperhidrosis Fatigue Hernia Arthralgia Joint laxity Arachnodactyly [mendelian.co]

[…] hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital bowing of long bones Congenital cataracts-facial dysmorphism-neuropathy syndrome Congenital contractural arachnodactyly [se-atlas.de]

Congenital Malformation Syndromes Involving Early Overgrowth

Linkage Analysis for Congenital Contractural Arachnodactyly Table 3. Table 3. [nejm.org]

Bulbous nose * Long philtrum * Nasal stenosis * Small mouth * Down turned corners of mouth * Midline in lower ip * Highly arched palate * Asymmetrical thorax * Short neck * Arachnodactyly [checkorphan.org]

0001270 8 telecanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000506 9 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368 10 arachnodactyly [malacards.org]

Mononen-Karnes-Senac Syndrome

Mental retardation contractural arachnodactyly[?] Mental retardation dysmorphism hypogonadism diabetes[?] Mental retardation epilepsy bulbous nose[?] [encyclopedia.kids.net.au]

Ehlers-Danlos Syndrom Classic Type 2

[…] when ordering the Ehlers-Danlos Syndrome Panel ICD-10 Disease Q87.40 Marfan syndrome Q87.89 Loeys-Dietz syndrome Q79.6 Ehlers-Danlos syndrome Q87.89 Congenital contractural arachnodactyly [blueprintgenetics.com]

[…] hemarthrosis (especially knees) recurrent dislocation: including spontaneous dislocation of the temporomandibular joint 3 precocious osteoarthritis kyphoscoliosis spondylolisthesis arachnodactyly [radiopaedia.org]

Cole-Carpenter syndrome 1 P4HB Del Dup NGS Cole-Carpenter syndrome 2 SEC24D Del Dup NGS Cole-Carpenter syndrome NGS panel P4HB, SEC24D Del Dup NGS Congenital contractural arachnodactyly [ctgt.net]

Ehlers-Danlos Syndrome Hypermobility Type

Arachnodactyly, as defined in one or more of the following: (i) positive wrist sign (Steinberg sign) on both sides; (ii) positive thumb sign (Walker sign) on both sides 10 [rarediseases.info.nih.gov]

Ectopia Lentis et Pupillae

Linkage Analysis for Congenital Contractural Arachnodactyly Table 3. Table 3. [nejm.org]

Pagina 120 - Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 [books.google.ro]

Systemic examination revealed no arachnodactyly, joint hyperextensibility, scoliosis, or cardiac anomalies, and span-to-height measurements were normal in all patients. [cags.org.ae]

Partial Trisomy 4p Syndrome

Arachnodactyly and camptodactyly. Molecular characterization of 4p is imperative. [ncbi.nlm.nih.gov]

Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia [orpha.net]

Amaurosis-Hypertrichosis Syndrome

[…] hyperlaxite spondylolisthesis Arachnodactylie abnormal ossification backwardness Arachnodactylie backwardness dysmorphie Arbovirose Arc branchial syndrome binds has L X Abnormal [wikipedia.qwika.com]

[…] terminal transverse limb defects) (Aplasia cutis congenita, congenital heart defect, and frontonasal cysts, included) 6 100600 Acanthosis nigricans 7 100700 Achard syndrome (Arachnodactyly-micrognathia [becomerich.lab.u-ryukyu.ac.jp]

Arachnodactyly ataxia cataract aminoaciduria mental retardation[?] Arachnodactyly mental retardation dysmorphism[?] Arachnoid cysts[?] Arachnoiditis[?] [encyclopedia.kids.net.au]

Arterial Tortuosity Syndrome

[…] and other evidence of a generalized connective tissue disorder including skeletal findings (scoliosis, pectus excavatum/carinatum, joint laxity, knee/elbow contractures, arachnodactyly [ncbi.nlm.nih.gov]

Among the signs and symptoms demonstrated, by this condition are the following: Arachnodactyly Congenital diaphragmatic hernia Mental dysfunction Keratoconus Aortic regurgitation [en.wikipedia.org]

[…] syndrome is a rare condition characterized by tortuosity and elongation of the major arteries. 1 This syndrome has phenotypic heterogeneity, but common findings include arachnodactyly [neurology.org]

Marchesani-Weill Syndrome

Patterson WJ : Case of arachnodactyly, Canad. M. A. J. 28: 652, 1933. MedlineGoogle Scholar 16. [acpjournals.org]

Several of these persons had arachnodactyly and were regarded as having the Marfan syndrome, but two were of stunted stature with short, stiff digits. [whonamedit.com]

Weve H : Ueber Arachnodactylie (Dystrophia mesodermalis congenita, Typus Marfanis), Arch. f. Augenh. 104: 1, 1931. Google Scholar 9. [acpjournals.org]

Muscular Dystrophy-Dystroglycanopathy Type C7

Interestingly, some patients present with dysphagia, arachnodactyly and res- piratory insufficiency. CK range is l-3x. No cardiac in- volvement has been reported. [archive.org]

[…] syndrome Urogenital adysplasia MOGS-CDG (CDG-IIb) Familial Mediterranean fever Cardiomyopathy cataract hip spine disease Spinocerebellar ataxia 11 Congenital contractural arachnodactyly [checkrare.com]

Spondylo-Ocular Syndrome

Mutations in a highly homologous gene, genes for fibrillin-2 (FBN2), at 5q23-q31, cause congenital contractural arachnodactyly (MIM 121050). [ommbid.mhmedical.com]

Beals syndrome Also known as congenital contractural arachnodactyly (CCA): Characterized by Marfanoid habitus, joint contractures, and crumpled ears. [rheumatologyadvisor.com]

Most typical are the elongated armspan (more than 5% difference with stature) and arachnodactyly (evidenced by positive wrist and thumbsigns). [annalscts.com]

Congenitally Short Costocoracoid Ligament

Central Hypoventilation Syndrome Congenital centronuclear myopathy Congenital Chloride Diarrhea Congenital clasped thumb Congenital CMV infection Congenital Contractural Arachnodactyly [diseaseinfosearch.org]

Acro-Pectoral Syndrome

The 60-year-old father had mild scoliosis, blindness, and arachnodactyly. [munisdundar.com]

Dundar are as follow; “Dundar syndrome, 1997”, “Dundar Acropectoral Syndrome, 2001”, “Blindness, Scoliosis, Arachnodactyly Syndrome, 2008” and “Multiple Congenital Anomaly [intechopen.com]

Dundar; “Dundar syndrome, 1997”, “Dundar Acropectoral Syndrome, 2001”, “Blindness, Scoliosis, Arachnodactyly Syndrome, 2008” and “Multiple Congenital Anomaly and Mental Retardation [sites.google.com]

Lytic Bone Lesion

Arachnodactyly ataxia cataract aminoaciduria mental retardation Arachnodactyly mental retardation dysmorphism Arachnoid cysts Arachnoiditis Arakawa's syndrome II Arbovirosis [wikidoc.org]

[…] ataxia cataract aminoaciduria mental retardation Arachnodactyly mental retardation dysmorphism Arachnoid cysts Arachnoiditis Arakawa'sa syndrome II Arbovirosis Arc syndrome [starrepublic.org]

Arachnodactyly ataxia cataract aminoaciduria mental retardation[?] Arachnodactyly mental retardation dysmorphism[?] Arachnoid cysts[?] Arachnoiditis[?] [encyclopedia.kids.net.au]

Mesomelic Dysplasia Type Savarirayan

[…] digits Mental retardation Mental retardation and microcephaly with pontine and cerebellar hypoplasia Mental retardation anophthalmia craniosynostosis Mental retardation arachnodactyly [diseaseinfosearch.org]

Humero-Radial Synostosis

Examination of limbs revealed fused elbows, multiple joint contractures and arachnodactyly. [bioline.org.br]

[…] normal brain development and cause retardation. [9] Auditory dysfunction may be conductive or sensorineural. [3] Although radiohumeral synostosis, joint contractures and arachnodactyly [jpgmonline.com]

[…] hypoplasia, choanal atresia, depressed nasal bridge, dysplastic ears, stenotic external auditory canals, bowed femurs, joint contractures, narrow chest with gracile ribs, arachnodactyly [rrnursingschool.biz]

Autosomal Recessive Cutis Laxa Type 1A

Arachnodactyly, bone fragility, vascular tortuosity and aortic aneurysms are common findings in patients carrying EFEMP2 mutations. [rarediseases.info.nih.gov]

[…] tissue Congenital diaphragmatic hernia Inguinal hernia Umbilical hernia Abnormality of head or neck Abnormality of the face Microcephaly Overgrowth Abnormality of limbs Arachnodactyly [familydiagnosis.com]

Less frequent findings include late closure of the fontanel, joint laxity, hip dislocation, inguinal hernia, arachnodactyly, bone fragility, vascular tortuosity and aortic [rarediseases.info.nih.gov]