Relative macrocephaly

Symptom Information:

Symptom ID: HPO:0004482
Synonyms:
Disproportionately large head [HPO:0004482]
Macrocephaly, relative [HPO:0004482]
Relatively large head [HPO:0004482]
Macrocephaly [Orphanet:2040]
Macrocephaly (disorder) [Orphanet:2040]
Large head (disorder) [Orphanet:2040]
Disproportionately large head [OMIM:Disproportionately large head]
Macrocephaly, relative [OMIM:Macrocephaly, relative]
Relative macrocephaly [OMIM:Relative macrocephaly]
Relatively large head [OMIM:Relatively large head]
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:0001355 "Megalencephaly" [Orphanet:2040]
Orphanet:2040 "Macrocephaly/macrocrania/megalocephaly/megacephaly" [Orphanet:2040]
OMIM: "Disproportionately large head" [OMIM:Disproportionately large head]
OMIM: "Macrocephaly, relative" [OMIM:Macrocephaly, relative]
OMIM: "Relative macrocephaly" [OMIM:Relative macrocephaly]
OMIM: "Relatively large head" [OMIM:Relatively large head]
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:C2243051 "Large head (disorder)" [Orphanet:2040]
UMLS:C0221355 "Macrocephaly" [Orphanet:2040]
Is a (Direct Parents):
Orphanet Abnormality of the skull
HPO         Macrocephaly
MedDRA Musculoskeletal and connective tissue disorders of skull congenital
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal axial skeleton morphology(HPO:0009121)
                Abnormality of the skull(HPO:0000929)
                   Abnormality of skull size(HPO:0000240)
                      Macrocephaly(HPO:0000256)
                         Relative macrocephaly(HPO:0004482)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the skull(HPO:0000929)
                Abnormality of skull size(HPO:0000240)
                   Macrocephaly(HPO:0000256)
                      Relative macrocephaly(HPO:0004482)
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)
          Relative macrocephaly(HPO:0004482)
Database Frequency: 44 / 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)
Acrocapitofemoral dysplasia (Orphanet:63446)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal recessive Robinow syndrome (Orphanet:1507)
B4GALT1-CDG (Orphanet:79332)
Bardet-Biedl syndrome (Orphanet:110)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Cabezas syndrome (Orphanet:85293)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cranioectodermal dysplasia 3 (OMIM:614099)
D,L-2-hydroxyglutaric aciduria (Orphanet:356978)
DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Desmosterolosis (Orphanet:35107)
Ectodermal dysplasia with natal teeth, Turnpenny type (Orphanet:69083)
Facial dysmorphism - immunodeficiency - livedo - short stature (Orphanet:352712)
Familial lambdoid synostosis (Orphanet:3267)
Fumaric aciduria (Orphanet:24)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
IMAGe syndrome (Orphanet:85173)
Legius syndrome (Orphanet:137605)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Lethal Kniest-like dysplasia (Orphanet:2347)
Multiple congenital anomalies - hypotonia - seizures syndrome (Orphanet:280633)
NOONAN SYNDROME 8 (OMIM:615355)
OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS (OMIM:600399)
PELGER-HUET ANOMALY (OMIM:169400)
Peters-plus syndrome (Orphanet:709)
SPONASTRIME dysplasia (Orphanet:93357)
Short stature, Brussels type (Orphanet:2867)
Short-rib thoracic dysplasia 13 with or without polydactyly (OMIM:616300)
Spondyloepimetaphyseal dysplasia, aggrecan type (Orphanet:171866)
Syndromic multisystem autoimmune disease due to Itch deficiency (Orphanet:228426)
TEMPLE SYNDROME (OMIM:616222)
Toriello-Lacassie-Droste syndrome (Orphanet:3339)
Trismus - pseudocamptodactyly (Orphanet:3377)
Watson syndrome (Orphanet:3444)
X-linked epilepsy - learning disabilities - behavior disorders (Orphanet:85294)