About: Acrocallosal syndrome

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http://dbpedia.org/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FAcrocallosal_syndrome

Acrocallosal syndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. The syndrome was first described by Albert Schinzel in 1979. Mutations in KIF7 are causative for ACLS, and mutations in GLI3 are associated with a similar syndrome.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Disorder114052403 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes umbel-rc:AilmentCondition
rdfs:label	Acrocallosal syndrome (en) متلازمة الأطراف الثفنية (ar) Akrokallosales Syndrom (de) Síndrome acrocalloso (es)
rdfs:comment	تنتج متلازمة الأطراف الثفنية عن وراثة جسمية متنحية، وهي حالة نادرة تتميز بعدم تخلق الجسم الثفني، وكثرة الأصابع، وتشوهات متعددة، وإعاقات حركية وعقلية، وأعراض أخرى. وصفت المتلازمة أول مرة من قبل ألبرت شينزيل في عام 1979. ترتبط المتلازمة بالبروتين جي إل آي 3. (ar) Akrokallosales Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Agenesie des Corpus callosum (CC), distal betonte Fehlbildungen der Extremitäten, insbesondere Polydaktylie, Gesichtsauffälligkeiten und geistige Behinderung. Synonyme sind: Acrocallosal-Syndrom; ACLS; ACS Schinzel-Typ; englisch Hallux-duplication; Absence of Corpus Callosum, Schinzel Type; Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum Der Erstbeschrieb erfolgte 1979 durch den österreichischen Humangenetiker . (de) Acrocallosal syndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. The syndrome was first described by Albert Schinzel in 1979. Mutations in KIF7 are causative for ACLS, and mutations in GLI3 are associated with a similar syndrome. (en) El síndrome acrocalloso (también conocido como ACLS) es un raro síndrome autosómico recesivo que se caracteriza por agenesia del cuerpo calloso, polidactilia, múltiples rasgos dismórficos, retraso motor y mental así como otros síntomas. El síndrome fue descrito por primera vez por en 1979. Se asocia con una mutación en , una proteína dedo de zinc. (es)
foaf:name	Acrocallosal syndrome (en)
name	Acrocallosal syndrome (en)
foaf:depiction
dcterms:subject	Rare genetic syndromes Syndromes with cleft lip and/or palate Syndromes with craniofacial abnormalities Autosomal recessive disorders Syndromes with dysmelia Syndromes with intellectual disability Ciliopathy Corpus callosum
Wikipage page ID	17101254 (xsd:integer)
Wikipage revision ID	1110515567 (xsd:integer)
Link from a Wikipage to another Wikipage	Rubinstein–Taybi syndrome Epilepsy Corpus callosum agenesis Anticonvulsant Antihypertensive drug Dysmorphic feature Infant respiratory distress syndrome Pediatric neuropsychology Rare genetic syndromes Syndromes with cleft lip and/or palate Syndromes with craniofacial abnormalities Cleft palate Cockayne syndrome Oto-palato-digital syndrome Autosomal recessive disorders Chorionic villus sampling Smith–Lemli–Opitz syndrome Macrocephaly Meckel–Gruber syndrome Medical imaging in pregnancy Agenesis of the corpus callosum Aicardi syndrome Toriello–Carey syndrome GLI3 Syndromes with dysmelia Ciliopathy KIF7 Psychomotor retardation Syndromes with intellectual disability Hallux Hedgehog signaling pathway Hypertelorism Hypotonia Young–Madders syndrome Ciliopathy Corpus callosum Toe Dominance (genetics) Special education Greig cephalopolysyndactyly syndrome Intellectual disability Neu–Laxova syndrome Obstetric ultrasonography Occupational therapy Orofaciodigital syndrome Seizure Renovascular hypertension Pallister–Hall syndrome Polydactyly Intracranial cyst
sameAs	Acrocallosal syndrome Acrocallosal syndrome Acrocallosal syndrome

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