About: Wiedemann–Steiner syndrome

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Wiedemann–Steiner syndrome (WSS) is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone (hypotonia). The syndrome was originally described in 1989 by Hans-Rudolf Wiedemann. The genetic basis for the syndrome was identified by Dr. Wendy D. Jones in 2012. The first case was reported in 1989 by Wiedemann and colleagues which reported a Caucasian boy with pre- and postnatal growth deficiency, psychomotor delay, and a round and flat face, short nose, widely spaced eyes, long philtrum, short palpebral fissures, low-set ears, and high-arched palate. Other findings included an alternating convergent squint, dilatation of the renal calyces, and short and thick limbs. Later decades brought about more finding and descriptions o

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	Wiedemann-Steiner-Syndrom (de) Wiedemann–Steiner syndrome (en)
rdfs:comment	Das Wiedemann-Steiner-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Hypertrichose, Kleinwuchs, Gesichtsdysmorphie und Entwicklungsverzögerung. Synonyme sind: Hypertrichose-Kleinwuchs-Gesichtsdysmorphie-Entwicklungsverzögerung-Syndrom Die Namensbezeichnung bezieht sich auf die Erstautoren der Erstbeschreibung aus dem Jahre 1989 durch Hans-Rudolf Wiedemann und Mitarbeiter sowie eines Berichtes aus dem Jahre 2000 durch C. E. Steiner und A. P. Marques. (de) Wiedemann–Steiner syndrome (WSS) is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone (hypotonia). The syndrome was originally described in 1989 by Hans-Rudolf Wiedemann. The genetic basis for the syndrome was identified by Dr. Wendy D. Jones in 2012. The first case was reported in 1989 by Wiedemann and colleagues which reported a Caucasian boy with pre- and postnatal growth deficiency, psychomotor delay, and a round and flat face, short nose, widely spaced eyes, long philtrum, short palpebral fissures, low-set ears, and high-arched palate. Other findings included an alternating convergent squint, dilatation of the renal calyces, and short and thick limbs. Later decades brought about more finding and descriptions o (en)
foaf:name	Wiedemann–Steiner syndrome (en)
name	Wiedemann–Steiner syndrome (en)
dcterms:subject	Genetic diseases and disorders Rare syndromes
Wikipage page ID	44585169 (xsd:integer)
Wikipage revision ID	1101700478 (xsd:integer)
Link from a Wikipage to another Wikipage	Rubinstein–Taybi syndrome Renal calyx Genetic disorder Equine-assisted therapy Autism Autosomal dominant Whole genome sequencing Genetic diseases and disorders KMT2A Kabuki syndrome Rare syndromes Hans-Rudolf Wiedemann Hypertrichosis cubiti Hypotonia Chromosome 11 (human) Exome sequencing Speech therapy Philtrum Palate Palpebral fissure Physiotherapy Syndromic facies dbr:Histone-modification_enzyme
Link from a Wikipage to an external page	http://omim.org/entry/605130 https://doi.org/10.1002/ajmg.a.33587%3C/nowiki%3E https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome
sameAs	Wiedemann–Steiner syndrome Wiedemann–Steiner syndrome Wiedemann–Steiner syndrome Wiedemann–Steiner syndrome Wiedemann–Steiner syndrome
dbp:wikiPageUsesTemplate	dbt:Infobox_medical_condition_(new) dbt:Reflist
synonyms	Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (en)
has abstract	Das Wiedemann-Steiner-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Hypertrichose, Kleinwuchs, Gesichtsdysmorphie und Entwicklungsverzögerung. Synonyme sind: Hypertrichose-Kleinwuchs-Gesichtsdysmorphie-Entwicklungsverzögerung-Syndrom Die Namensbezeichnung bezieht sich auf die Erstautoren der Erstbeschreibung aus dem Jahre 1989 durch Hans-Rudolf Wiedemann und Mitarbeiter sowie eines Berichtes aus dem Jahre 2000 durch C. E. Steiner und A. P. Marques. (de) Wiedemann–Steiner syndrome (WSS) is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone (hypotonia). The syndrome was originally described in 1989 by Hans-Rudolf Wiedemann. The genetic basis for the syndrome was identified by Dr. Wendy D. Jones in 2012. The first case was reported in 1989 by Wiedemann and colleagues which reported a Caucasian boy with pre- and postnatal growth deficiency, psychomotor delay, and a round and flat face, short nose, widely spaced eyes, long philtrum, short palpebral fissures, low-set ears, and high-arched palate. Other findings included an alternating convergent squint, dilatation of the renal calyces, and short and thick limbs. Later decades brought about more finding and descriptions of this disorder. (en)
prov:wasDerivedFrom	wikipedia-en:Wiedemann–Steiner_syndrome?oldid=1101700478&ns=0
page length (characters) of wiki page	8529 (xsd:nonNegativeInteger)
foaf:isPrimaryTopicOf	wikipedia-en:Wiedemann–Steiner_syndrome
is Link from a Wikipage to another Wikipage of	Patent ductus arteriosus Chromosome 11 Psychomotor retardation Hans-Rudolf Wiedemann Hypotonia Wiedemann-steiner Wiedemann-Steiner syndrome Weidemann Steiner Syndrome
is Wikipage redirect of	Wiedemann-steiner Wiedemann-Steiner syndrome Weidemann Steiner Syndrome
is foaf:primaryTopic of	wikipedia-en:Wiedemann–Steiner_syndrome

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