Arnold-Chiari malformation

Symptom Information:

Symptom ID: HPO:0002308
Synonyms:
Arnola-Chiari malformation [HPO:0002308]
Chiari malformation [HPO:0002308]
Chiari malformation [Orphanet:42570]
Chiari malformation (disorder) [Orphanet:42570]
Chiari malformation type II [Orphanet:42570]
Arnold Chiari Malformation [Orphanet:42570]
Arnola-Chiari malformation [OMIM:Arnola-Chiari malformation]
Arnold-Chiari malformation [OMIM:Arnold-Chiari malformation]
Chiari malformation [OMIM:Chiari malformation]
Arnold-Chiari anomaly [Orphanet:42570]
Arnold-Chiari malformation [Orphanet:42570]
Arnold-Chiari malformation [MedDRA:10003101]
Chiari malformation [MedDRA:10003101]
Arnold-Chiari malformation type I [MedDRA:10003101]
Arnold-Chiari malformation type II [MedDRA:10003101]
Arnold-Chiari malformation type III [MedDRA:10003101]
Chiari malformation (uncommon) [OMIM:Chiari malformation (uncommon)]
Type II Arnold Chiari malformation [OMIM:Type II Arnold Chiari malformation]
Quality:
Cross references:
Orphanet:42570 "Arnold-Chiari anomaly" [Orphanet:42570]
OMIM: "Arnola-Chiari malformation" [OMIM:Arnola-Chiari malformation]
OMIM: "Arnold-Chiari malformation" [OMIM:Arnold-Chiari malformation]
OMIM: "Chiari malformation" [OMIM:Chiari malformation]
OMIM: "Chiari malformation (uncommon)" [OMIM:Chiari malformation (uncommon)]
OMIM: "Type II Arnold Chiari malformation" [OMIM:Type II Arnold Chiari malformation]
UMLS:C0555206 "Chiari malformation type II" [Orphanet:42570]
UMLS:C0003803 "Arnold Chiari Malformation" [Orphanet:42570]
Is a (Direct Parents):
Orphanet Hydrocephalus
HPO         Cerebellar malformation
MedDRA Cerebellar disorders congenital
Is a (Whole tree): HPO:
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Neurological disorders congenital(MedDRA:10029299)
       Cerebellar disorders congenital(MedDRA:10052633)
          Arnold-Chiari malformation(HPO:0002308)
Database Frequency: 42 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microdeletion syndrome (Orphanet:276413)
12q14 microdeletion syndrome (Orphanet:94063)
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Acroosteolysis, dominant type (Orphanet:955)
Aicardi syndrome (Orphanet:50)
Apert syndrome (Orphanet:87)
Arnold-Chiari malformation type II (Orphanet:1136)
Caudal regression sequence (Orphanet:3027)
Cloacal exstrophy (Orphanet:93929)
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis (Orphanet:171839)
Crouzon disease (Orphanet:207)
Crouzon syndrome - acanthosis nigricans (Orphanet:93262)
Distal 7q11.23 microdeletion syndrome (Orphanet:254351)
Distal 7q11.23 microduplication syndrome (Orphanet:261102)
Exstrophy-epispadias complex (Orphanet:322)
Focal dermal hypoplasia (Orphanet:2092)
Goldenhar syndrome (Orphanet:374)
Hurler-Scheie syndrome (Orphanet:93476)
Isolated oxycephaly (Orphanet:63440)
Isolated sedoheptulokinase deficiency (ORPHA:440713)
Isolated spina bifida (Orphanet:823)
LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Lateral meningocele syndrome (Orphanet:2789)
Lathosterolosis (Orphanet:46059)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Neurocutaneous melanocytosis (Orphanet:2481)
Noonan syndrome (Orphanet:648)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
Pfeiffer syndrome (Orphanet:710)
Pfeiffer syndrome type 2 (Orphanet:93259)
Pfeiffer syndrome type 3 (Orphanet:93260)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Sturge-Weber syndrome (Orphanet:3205)
Tetraploidy (Orphanet:3305)
Townes-Brocks syndrome (Orphanet:857)
Trisomy 13 (Orphanet:3378)
Trisomy 18 (Orphanet:3380)
Williams syndrome (Orphanet:904)