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]
Clinical features include a tall slender habitus, scoliosis, arachnodactyly, muscle weakness, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence
[icd10data.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]
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]
Learn More in these related Britannica articles: connective tissue disease: Hereditary disorders of connective tissue Marfan syndrome, also called arachnodactyly (“spider
[britannica.com]
(Both PLS and Haim munk are palmar plantar keratodermas with periodontal destruction, but the additional findings in Haim Munk include onychogryphosis, arachnodactyly, acral
[dermatologyadvisor.com]
Keratosis palmo-plantaris congenita, with periodontosis, arachnodactyly, and peculiar deformity of the terminal phalanges. Br J Dermatol. 1965; 77 :42–54. [ PubMed ] 6.
[ncbi.nlm.nih.gov]
Keratosis palmo-plantaris congenital, with perikontosis, arachnodactyly and peculiar deformity of the terminal phalanges. Br J Dermatol 1965;77:42-54. 18.
[jisppd.com]
Congenita AR 100 2 of 2 EXOSC3 Pontocerebellar Hypoplasia Type 1b AR 100 19 of 20 FAM20C Lethal Osteosclerotic Bone Dysplasia AR 97.8 29 of 29 FBN2 Congenital Contractural Arachnodactyly
[igenomix.es]
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]
The radiological features were characterized by late-onset craniosynostosis, arachnodactyly, undermodeling of short tubular bones, mildly undermodeled and slightly bowed long
[link.springer.com]
The main skeletal findings in SGCS are: arachnodactyly (long, thin fingers), flat feet, "bird" chest deformity, scoliosis (curvature of the spine), and loose joints.
[cags.org.ae]
"A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias".
[en.wikipedia.org]
[…] 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
[en.wikipedia.org]
[…] web neck Mental retardation Buenos Aires type Mental retardation cataracts calcified pinnae myopathy Mental retardation coloboma slimness Mental retardation contractural arachnodactyly
[statemaster.com]
[…] 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]
Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism
[abcam.com]
[…] 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]
[…] arthrogryposis ) are common scoliosis variable other features include intrauterine death congenital respiratory distress short stature faciocranial dysmorphism ptosis low-set ears arachnodactyly
[anvita.info]
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]
[…] caso de aracnodactilia contractural congénita (síndrome de Beals-Hecht) / Electroclinical evaluation of the peripheral nervous system in a case of congenital contractural arachnodactyly
[pesquisa.bvsalud.org]
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]
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]
[…] web neck Mental retardation Buenos Aires type Mental retardation cataracts calcified pinnae myopathy Mental retardation coloboma slimness Mental retardation contractural arachnodactyly
[academickids.com]
* 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]
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]
[…] retardation blepharophimosis obesity web neck Mental retardation cataracts calcified pinnae myopathy Mental retardation coloboma slimness Mental retardation contractural arachnodactyly
[mindmappedia.com]
[…] web neck Mental retardation Buenos Aires type Mental retardation cataracts calcified pinnae myopathy Mental retardation coloboma slimness Mental retardation contractural arachnodactyly
[en.wikipedia.org]
[…] disorders Mental mixed retardation deafnes clubbed digits Mental r Mental retardation a-Mental retardation m Mental retardation anophthalmia craniosynostosis Mental retardation arachnodactyly
[thefullwiki.org]
[…] 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]
[…] 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]
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]
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]
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]
Patterson WJ : Case of arachnodactyly, Canad. M. A. J. 28: 652, 1933. MedlineGoogle Scholar 16.
[acpjournals.org]
He recognised that although ectopia lentis was a feature of the Marfan syndrome, the patients whom he had studied had short fingers rather than arachnodactyly.
[whonamedit.com]
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]
[…] 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]
[…] 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]
[…] hyperlaxite spondylolisthesis Arachnodactylie abnormal ossification backwardness Arachnodactylie backwardness dysmorphie Arbovirose Arc branchial syndrome binds has L X Abnormal
[wikipedia.qwika.com]
Arachnodactyly ataxia cataract aminoaciduria mental retardation[?] Arachnodactyly mental retardation dysmorphism[?] Arachnoid cysts[?] Arachnoiditis[?]
[encyclopedia.kids.net.au]
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]
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]
[…] hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital bowing of long bones Congenital cataracts-facial dysmorphism-neuropathy syndrome Congenital contractural arachnodactyly
[se-atlas.de]
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]
[…] 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]
Central Hypoventilation Syndrome Congenital centronuclear myopathy Congenital Chloride Diarrhea Congenital clasped thumb Congenital CMV infection Congenital Contractural Arachnodactyly
[diseaseinfosearch.org]
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]
[…] 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]
[…] digits Mental retardation Mental retardation and microcephaly with pontine and cerebellar hypoplasia Mental retardation anophthalmia craniosynostosis Mental retardation arachnodactyly
[diseaseinfosearch.org]
[…] hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital bowing of long bones Congenital cataracts-facial dysmorphism-neuropathy syndrome Congenital contractural arachnodactyly
[se-atlas.de]
[…] ideomotor) (motor) 784.69 Aptyalism 527.7 Aqueous misdirection 365.83 Arabicum elephantiasis (see also Infestation, filarial) 125.9 Arachnidism 989.5 Arachnitis - see Meningitis Arachnodactyly
[icd9data.com]
Highly arched eyebrow Macrocephalus Microcephaly Micrognathia Narrow forehead Narrow palpebral fissure Oligodontia Underdeveloped supraorbital ridges Abnormality of limbs Arachnodactyly
[ncbi.nlm.nih.gov]
Showing of 35 | Percent of people who have these symptoms is not available through HPO Abnormal facial shape Unusual facial appearance 0001999 Arachnodactyly Long slender
[rarediseases.info.nih.gov]
[…] hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital bowing of long bones Congenital cataracts-facial dysmorphism-neuropathy syndrome Congenital contractural arachnodactyly
[se-atlas.de]