Megalencephaly

Symptom Information:

Symptom ID: HPO:0001355
Synonyms:
Macrencephaly [HPO:0001355]
Macrocephaly [Orphanet:2040]
Macrocephaly (disorder) [Orphanet:42750]
Macroencephaly (disorder) [Orphanet:42750]
Macrocephaly (disorder) [Orphanet:2040]
Large head (disorder) [Orphanet:2040]
Macroencephaly [Orphanet:42750]
Macrocephaly [Orphanet:42750]
Megalencephaly [OMIM:Megalencephaly]
Megalencephaly [Orphanet:42750]
Macrocephaly/macrocrania/megalocephaly/megacephaly [Orphanet:2040]
Macrocephaly [MedDRA:10050183]
Congenital macrocephaly [MedDRA:10050183]
Macrocephaly NOS [MedDRA:10050183]
Macrocephaly (1 patient) [OMIM:Macrocephaly (1 patient)]
Macrocephaly (25%) [OMIM:Macrocephaly (25%)]
Macrocephaly (26%) [OMIM:Macrocephaly (26%)]
Macrocephaly (39%) [OMIM:Macrocephaly (39%)]
Macrocephaly (64%) [OMIM:Macrocephaly (64%)]
Macrocephaly (8%) [OMIM:Macrocephaly (8%)]
Macrocephaly (due to Dandy-Walker malformation) [OMIM:Macrocephaly (due to Dandy-Walker malformation)]
Macrocephaly (half of cases) [OMIM:Macrocephaly (half of cases)]
Macrocephaly (homozygote) [OMIM:Macrocephaly (homozygote)]
Macrocephaly (in 2 of 7 patients) [OMIM:Macrocephaly (in 2 of 7 patients)]
Macrocephaly (in some patients) [OMIM:Macrocephaly (in some patients)]
Macrocephaly (less common) [OMIM:Macrocephaly (less common)]
Macrocephaly (rare) [OMIM:Macrocephaly (rare)]
Quality:
Cross references:
HPO:0000256 "Macrocephaly" [Orphanet:2040]
HPO:0004482 "Relative macrocephaly" [Orphanet:2040]
Orphanet:42750 "Megalencephaly" [Orphanet:42750]
Orphanet:2040 "Macrocephaly/macrocrania/megalocephaly/megacephaly" [Orphanet:2040]
OMIM: "Megalencephaly" [OMIM:Megalencephaly]
OMIM: "Macrocephaly (1 patient)" [OMIM:Macrocephaly (1 patient)]
OMIM: "Macrocephaly (25%)" [OMIM:Macrocephaly (25%)]
OMIM: "Macrocephaly (26%)" [OMIM:Macrocephaly (26%)]
OMIM: "Macrocephaly (39%)" [OMIM:Macrocephaly (39%)]
OMIM: "Macrocephaly (64%)" [OMIM:Macrocephaly (64%)]
OMIM: "Macrocephaly (8%)" [OMIM:Macrocephaly (8%)]
OMIM: "Macrocephaly (due to Dandy-Walker malformation)" [OMIM:Macrocephaly (due to Dandy-Walker malformation)]
OMIM: "Macrocephaly (half of cases)" [OMIM:Macrocephaly (half of cases)]
OMIM: "Macrocephaly (homozygote)" [OMIM:Macrocephaly (homozygote)]
OMIM: "Macrocephaly (in 2 of 7 patients)" [OMIM:Macrocephaly (in 2 of 7 patients)]
OMIM: "Macrocephaly (in some patients)" [OMIM:Macrocephaly (in some patients)]
OMIM: "Macrocephaly (less common)" [OMIM:Macrocephaly (less common)]
OMIM: "Macrocephaly (rare)" [OMIM:Macrocephaly (rare)]
UMLS:C2720434 "Macroencephaly" [Orphanet:42750]
UMLS:C0221355 "Macrocephaly" [Orphanet:42750]
UMLS:C2243051 "Large head (disorder)" [Orphanet:2040]
UMLS:C0221355 "Macrocephaly" [Orphanet:2040]
Is a (Direct Parents):
Orphanet Abnormality of the skull
HPO         Abnormality of the cerebrum
MedDRA Musculoskeletal and connective tissue disorders of skull congenital
Orphanet Structural anomalies of the nervous system
Is a (Whole tree): HPO:
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of skull congenital(MedDRA:10028382)
          Megalencephaly(HPO:0001355)
Database Frequency: 39 / 7739
Resource:

All diseases associated with this symptom:

17q11 microdeletion syndrome (Orphanet:97685)
17q11.2 microduplication syndrome (Orphanet:139474)
1q21.1 microduplication syndrome (Orphanet:250994)
5p13 microduplication syndrome (Orphanet:329802)
ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Achondroplasia (Orphanet:15)
Alexander disease (Orphanet:58)
Apert syndrome (Orphanet:87)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal recessive Robinow syndrome (Orphanet:1507)
B4GALT1-CDG (Orphanet:79332)
Bardet-Biedl syndrome (Orphanet:110)
CRANIOMETADIAPHYSEAL DYSPLASIA (OMIM:269300)
Cranioectodermal dysplasia 3 (OMIM:614099)
D,L-2-hydroxyglutaric aciduria (Orphanet:356978)
Early-onset parkinsonism - intellectual deficit (Orphanet:2379)
Familial lambdoid synostosis (Orphanet:3267)
IMAGe syndrome (Orphanet:85173)
Legius syndrome (Orphanet:137605)
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
MEGALENCEPHALY WITH DYSMYELINATION (OMIM:249240)
MEGALENCEPHALY, AUTOSOMAL DOMINANT (OMIM:155350)
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
Megalencephalic leukoencephalopathy with subcortical cysts (Orphanet:2478)
Megalencephaly (Orphanet:2477)
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus (Orphanet:83473)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Multiple congenital anomalies - hypotonia - seizures syndrome (Orphanet:280633)
PELGER-HUET ANOMALY (OMIM:169400)
Peters-plus syndrome (Orphanet:709)
Pseudoaminopterin syndrome (Orphanet:221120)
Toriello-Lacassie-Droste syndrome (Orphanet:3339)
Trismus - pseudocamptodactyly (Orphanet:3377)
X-linked epilepsy - learning disabilities - behavior disorders (Orphanet:85294)