Macrocephaly
Symptom Information:
Symptom ID: | HPO:0000256 | ||||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) 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) 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) 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) Macrocephaly(HPO:0000256) |
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Database Frequency: | 298 / 7739 | ||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
10q22.3q23.3 microdeletion syndrome | (Orphanet:276413) |
15q11q13 microduplication syndrome | (Orphanet:238446) |
15q13.3 microdeletion syndrome | (Orphanet:199318) |
17q11 microdeletion syndrome | (Orphanet:97685) |
17q11.2 microduplication syndrome | (Orphanet:139474) |
1q21.1 microduplication syndrome | (Orphanet:250994) |
20p12.3 microdeletion syndrome | (Orphanet:261295) |
2q37 microdeletion syndrome | (Orphanet:1001) |
3C syndrome | (Orphanet:7) |
3q13 microdeletion syndrome | (Orphanet:1621) |
3q29 microdeletion syndrome | (Orphanet:65286) |
3q29 microduplication | (Orphanet:251038) |
5p13 microduplication syndrome | (Orphanet:329802) |
6q16 deletion syndrome | (Orphanet:171829) |
ADAMS-OLIVER SYNDROME 2 | (OMIM:614219) |
ARACHNOID CYSTS, INTRACRANIAL | (OMIM:207790) |
AURICULOCONDYLAR SYNDROME 1 | (OMIM:602483) |
AURICULOCONDYLAR SYNDROME 2 | (OMIM:614669) |
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES | (OMIM:109120) |
Achondrogenesis | (Orphanet:932) |
Achondrogenesis type 1A | (Orphanet:93299) |
Achondrogenesis type 1B | (Orphanet:93298) |
Achondrogenesis type 2 | (Orphanet:93296) |
Achondroplasia | (Orphanet:15) |
Acrocallosal syndrome | (Orphanet:36) |
Acrocapitofemoral dysplasia | (Orphanet:63446) |
Acroosteolysis, dominant type | (Orphanet:955) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia | (Orphanet:52055) |
Albers-Schönberg osteopetrosis | (Orphanet:53) |
Alpha-mannosidosis | (Orphanet:61) |
Angio-osteohypertrophic syndrome | (Orphanet:2346) |
Arterial tortuosity syndrome | (Orphanet:3342) |
Atkin-Flaitz syndrome | (Orphanet:1193) |
Atypical teratoid tumor | (Orphanet:99966) |
Auriculocondylar syndrome | (Orphanet:137888) |
Autosomal dominant Kenny-Caffey syndrome | (Orphanet:93325) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal dominant spondylocostal dysostosis | (Orphanet:1797) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive malignant osteopetrosis | (Orphanet:667) |
Autosomal recessive spondylocostal dysostosis | (Orphanet:2311) |
B4GALT1-CDG | (Orphanet:79332) |
BARTTER SYNDROME, ANTENATAL, TYPE 2 | (OMIM:241200) |
BRITTLE CORNEA SYNDROME 1 | (OMIM:229200) |
Bannayan-Riley-Ruvalcaba syndrome | (Orphanet:109) |
Bardet-Biedl syndrome | (Orphanet:110) |
Bartter syndrome | (Orphanet:112) |
Bifunctional enzyme deficiency | (Orphanet:300) |
Borjeson-Forssman-Lehmann syndrome | (Orphanet:127) |
Brachydactyly - elbow wrist dysplasia | (Orphanet:1275) |
Brachydactyly type E | (Orphanet:93387) |
Brittle cornea syndrome | (Orphanet:90354) |
CACH syndrome | (Orphanet:135) |
CAMPOMELIC DYSPLASIA | (OMIM:114290) |
CHROMOSOME 1p32-p31 DELETION SYNDROME | (OMIM:613735) |
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME | (OMIM:613603) |
CINCA syndrome | (Orphanet:1451) |
CLARK-BARAITSER SYNDROME | (OMIM:300602) |
COLE-CARPENTER SYNDROME 2 | (OMIM:616294) |
CORPUS CALLOSUM, AGENESIS OF | (OMIM:217990) |
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | (OMIM:122860) |
CRANIOMETADIAPHYSEAL DYSPLASIA | (OMIM:269300) |
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | (OMIM:123000) |
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE | (OMIM:218400) |
Cabezas syndrome | (Orphanet:85293) |
Campomelic dysplasia | (Orphanet:140) |
Canavan disease | (Orphanet:141) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Cerebral gigantism - jaw cysts | (Orphanet:2081) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Cerebro-oculo-nasal syndrome | (Orphanet:66625) |
Cleidocranial dysplasia | (Orphanet:1452) |
Cobblestone lissencephaly without muscular or ocular involvement | (Orphanet:352682) |
Congenital sodium diarrhea | (Orphanet:103908) |
Costello syndrome | (Orphanet:3071) |
Cowden syndrome | (Orphanet:201) |
Craniodiaphyseal dysplasia | (Orphanet:1513) |
Cranioectodermal dysplasia 3 | (OMIM:614099) |
Craniofacial dyssynostosis | (Orphanet:1516) |
Craniofaciofrontodigital syndrome | (Orphanet:363705) |
Craniolenticulosutural dysplasia | (Orphanet:50814) |
Craniometadiaphyseal dysplasia, wormian bone type | (Orphanet:85184) |
Craniometaphyseal dysplasia | (Orphanet:1522) |
Craniomicromelic syndrome | (Orphanet:1524) |
Cronkhite-Canada syndrome | (Orphanet:2930) |
D,L-2-hydroxyglutaric aciduria | (Orphanet:356978) |
D-2-@HYDROXYGLUTARIC ACIDURIA 1 | (OMIM:600721) |
D-2-hydroxyglutaric aciduria | (Orphanet:79315) |
Dandy-Walker malformation - postaxial polydactyly | (Orphanet:1566) |
Deafness - encephaloneuropathy - obesity - valvulopathy | (Orphanet:254898) |
Desmosterolosis | (Orphanet:35107) |
Diastrophic dwarfism | (Orphanet:628) |
Distal 22q11.2 microduplication syndrome | (Orphanet:261337) |
Distal limb deficiencies - micrognathia syndrome | (Orphanet:1307) |
Donnai-Barrow syndrome | (Orphanet:2143) |
Dysosteosclerosis | (Orphanet:1782) |
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 | (OMIM:130070) |
Early-onset parkinsonism - intellectual deficit | (Orphanet:2379) |
Ectodermal dysplasia - intellectual deficit - central nervous system malformation | (Orphanet:1812) |
Ehlers-Danlos syndrome, progeroid type | (Orphanet:75496) |
Encephalocraniocutaneous lipomatosis | (Orphanet:2396) |
Epimetaphyseal skeletal dysplasia | (Orphanet:1819) |
FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION | (OMIM:227250) |
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation | (Orphanet:1970) |
Familial lambdoid synostosis | (Orphanet:3267) |
Familial scaphocephaly syndrome, McGillivray type | (Orphanet:168624) |
Fountain syndrome | (Orphanet:3219) |
Fragile X syndrome | (Orphanet:908) |
Frontal encephalocele | (Orphanet:1931) |
Fucosidosis | (Orphanet:349) |
Gingival fibromatosis - facial dysmorphism | (Orphanet:2025) |
Glutaryl-CoA dehydrogenase deficiency | (Orphanet:25) |
Gorlin syndrome | (Orphanet:377) |
Greenberg dysplasia | (Orphanet:1426) |
Greig cephalopolysyndactyly syndrome | (Orphanet:380) |
HOLOPROSENCEPHALY 7 | (OMIM:610828) |
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 | (OMIM:615219) |
HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM | (OMIM:612089) |
HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED | (OMIM:241800) |
Holoprosencephaly | (Orphanet:2162) |
Hurler syndrome | (Orphanet:93473) |
Hurler-Scheie syndrome | (Orphanet:93476) |
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly | (Orphanet:2180) |
Hydrocephalus with stenosis of aqueduct of Sylvius | (Orphanet:2182) |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency | (Orphanet:289290) |
Hypertrichotic osteochondrodysplasia, Cantu type | (Orphanet:1517) |
Hypochondroplasia | (Orphanet:429) |
Hypoplasminogenemia | (Orphanet:722) |
ICF syndrome | (Orphanet:2268) |
IMAGe syndrome | (Orphanet:85173) |
Intellectual deficit - cataracts - calcified pinnae - myopathy | (Orphanet:3042) |
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures | (Orphanet:1568) |
Intellectual deficit, X-linked - macrocephaly - macro-orchidism | (Orphanet:85320) |
Intellectual deficit, X-linked, Armfield type | (Orphanet:85276) |
Intellectual deficit, X-linked, Kroes type | (Orphanet:163961) |
Intellectual deficit, X-linked, Nascimento type | (Orphanet:163956) |
Intellectual deficit, X-linked, Turner type | (Orphanet:85328) |
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome | (Orphanet:369837) |
Isolated cerebellar hypoplasia/agenesis | (Orphanet:1398) |
Isolated plagiocephaly | (Orphanet:35098) |
Isolated sedoheptulokinase deficiency | (ORPHA:440713) |
Ito hypomelanosis | (Orphanet:435) |
Jacobsen syndrome | (Orphanet:2308) |
Joubert syndrome | (Orphanet:475) |
Joubert syndrome 1 | (OMIM:213300) |
Joubert syndrome 2 | (OMIM:608091) |
Joubert syndrome with hepatic defect | (Orphanet:1454) |
Juvenile Paget disease | (Orphanet:2801) |
Juvenile polyposis syndrome | (Orphanet:2929) |
Kaler-Garrity-Stern syndrome | (Orphanet:2324) |
Keipert syndrome | (Orphanet:2662) |
Kenny-Caffey syndrome | (Orphanet:2333) |
Klippel-Trénaunay syndrome | (Orphanet:90308) |
L-2-hydroxyglutaric aciduria | (Orphanet:79314) |
LETHAL CONGENITAL CONTRACTURE SYNDROME 6 | (OMIM:616248) |
LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE | (OMIM:601356) |
LUBS X-LINKED MENTAL RETARDATION SYNDROME | (OMIM:300260) |
LUJAN-FRYNS SYNDROME | (OMIM:309520) |
Larsen-like osseous dysplasia - short stature | (Orphanet:2370) |
Legius syndrome | (Orphanet:137605) |
Lenz-Majewski hyperostotic dwarfism | (Orphanet:2658) |
Lethal Kniest-like dysplasia | (Orphanet:2347) |
Lethal chondrodysplasia, Moerman type | (Orphanet:1420) |
Lhermitte-Duclos disease | (Orphanet:65285) |
Ligneous conjunctivitis | (Orphanet:97231) |
Linear verrucous nevus syndrome | (Orphanet:2611) |
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY | (OMIM:606369) |
MACROCEPHALY, BENIGN FAMILIAL | (OMIM:153470) |
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE | (OMIM:248000) |
MASA syndrome | (Orphanet:2466) |
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-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 | (OMIM:615937) |
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 | (OMIM:615938) |
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTICFEATURES | (OMIM:613670) |
MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKINANOMALIES | (OMIM:606772) |
MENTAL RETARDATION, X-LINKED 72 | (OMIM:300271) |
MENTAL RETARDATION, X-LINKED 93 | (OMIM:300659) |
MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 | (OMIM:300676) |
MGAT2-CDG | (Orphanet:79329) |
MICROPHTHALMIA, SYNDROMIC 14 | (OMIM:615877) |
MOMO syndrome | (Orphanet:2563) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 | (OMIM:614643) |
Macrocephaly - short stature - paraplegia | (Orphanet:2427) |
Macrocephaly - spastic paraplegia - dysmorphism | (Orphanet:2429) |
McCune-Albright syndrome | (Orphanet:562) |
Megalencephalic leukoencephalopathy with subcortical cysts | (Orphanet:2478) |
Megalencephaly | (Orphanet:2477) |
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus | (Orphanet:83473) |
Megalencephaly-capillary malformation-polymicrogyria syndrome | (Orphanet:60040) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Metaphyseal dysostosis - intellectual deficit - conductive deafness | (Orphanet:2502) |
Monosomy 22q13 | (Orphanet:48652) |
Monosomy 9q22.3 | (Orphanet:77301) |
Muckle-Wells syndrome | (Orphanet:575) |
Mucopolysaccharidosis type 1 | (Orphanet:579) |
Mucopolysaccharidosis type 2 | (Orphanet:580) |
Mucopolysaccharidosis type 2, attenuated form | (Orphanet:217093) |
Mucopolysaccharidosis type 2, severe form | (Orphanet:217085) |
Mucopolysaccharidosis type 4 | (Orphanet:582) |
Mucopolysaccharidosis type 6 | (Orphanet:583) |
Mucopolysaccharidosis type 7 | (Orphanet:584) |
Muenke syndrome | (Orphanet:53271) |
Mulibrey nanism | (Orphanet:2576) |
Multiple acyl-CoA dehydrogenase deficiency | (Orphanet:26791) |
Multiple congenital anomalies - hypotonia - seizures syndrome | (Orphanet:280633) |
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 | (Orphanet:300496) |
Multiple epiphyseal dysplasia, Al-Gazali type | (Orphanet:166024) |
Multiple sulfatase deficiency | (Orphanet:585) |
Muscular dystrophy - white matter spongiosis | (Orphanet:1877) |
NOONAN SYNDROME 4 | (OMIM:610733) |
NOONAN SYNDROME 6 | (OMIM:613224) |
Neonatal adrenoleukodystrophy | (Orphanet:44) |
Neurofibromatosis type 1 | (Orphanet:636) |
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion | (Orphanet:363700) |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | (Orphanet:363972) |
Noonan syndrome-like disorder with loose anagen hair | (Orphanet:2701) |
OPITZ-KAVEGGIA SYNDROME | (OMIM:305450) |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 | (OMIM:259700) |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 | (OMIM:615085) |
Opsismodysplasia | (Orphanet:2746) |
Osteogenesis imperfecta | (Orphanet:666) |
Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
Osteopetrosis | (Orphanet:2781) |
Osteosclerosis - developmental delay - craniosynostosis | (Orphanet:178377) |
Overgrowth - macrocephaly - facial dysmorphism | (Orphanet:137634) |
PELGER-HUET ANOMALY | (OMIM:169400) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY | (OMIM:611087) |
PTEN hamartoma tumor syndrome | (Orphanet:306498) |
Pectus excavatum - macrocephaly - dysplastic nails | (Orphanet:2835) |
Perlman syndrome | (Orphanet:2849) |
Peters-plus syndrome | (Orphanet:709) |
Platyspondylic dysplasia, Torrance type | (Orphanet:85166) |
Proteus syndrome | (Orphanet:744) |
Proteus-like syndrome | (Orphanet:2969) |
Proximal 16p11.2 microdeletion syndrome | (Orphanet:261197) |
Proximal renal tubular acidosis | (Orphanet:47159) |
Pseudoaminopterin syndrome | (Orphanet:221120) |
Pyknoachondrogenesis | (Orphanet:3003) |
Pyruvate carboxylase deficiency | (Orphanet:3008) |
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 | (OMIM:616331) |
Radio-ulnar synostosis - intellectual deficit - hypotonia | (Orphanet:3270) |
Robinow-like syndrome | (Orphanet:3105) |
SCLEROSTEOSIS 2 | (OMIM:614305) |
SOTOS SYNDROME 1 | (OMIM:117550) |
Sandhoff disease | (Orphanet:796) |
Sandhoff disease, adult form | (Orphanet:309169) |
Sandhoff disease, infantile form | (Orphanet:309155) |
Sandhoff disease, juvenile form | (Orphanet:309162) |
Schneckenbecken dysplasia | (Orphanet:3144) |
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus | (Orphanet:137608) |
Severe Canavan disease | (Orphanet:314911) |
Severe achondroplasia - developmental delay - acanthosis nigricans | (Orphanet:85165) |
Short rib-polydactyly syndrome, Beemer-Langer type | (Orphanet:93268) |
Short rib-polydactyly syndrome, Verma-Naumoff type | (Orphanet:93271) |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | (Orphanet:314394) |
Short-rib thoracic dysplasia 8 with or without polydactyly | (OMIM:615503) |
Simpson-Golabi-Behmel syndrome | (Orphanet:373) |
Simpson-Golabi-Behmel syndrome type 2 | (Orphanet:79022) |
Sotos syndrome | (Orphanet:821) |
Spinocerebellar ataxia - dysmorphism | (Orphanet:1185) |
Spondylo-megaepiphyseal-metaphyseal dysplasia | (Orphanet:228387) |
Spondyloepimetaphyseal dysplasia with multiple dislocations | (Orphanet:93360) |
Sturge-Weber syndrome | (Orphanet:3205) |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | (Orphanet:308386) |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | (Orphanet:308393) |
Summitt syndrome | (Orphanet:3210) |
Symphalangism with multiple anomalies of hands and feet | (Orphanet:3246) |
Syndromic X-linked intellectual deficit due to JARID1C mutation | (Orphanet:85279) |
TENORIO SYNDROME | (OMIM:616260) |
TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS | (OMIM:611808) |
Tay-Sachs disease | (Orphanet:845) |
Temtamy syndrome | (Orphanet:1777) |
Tetrasomy 12p | (Orphanet:884) |
Thanatophoric dysplasia | (Orphanet:2655) |
Thanatophoric dysplasia type 1 | (Orphanet:1860) |
Thanatophoric dysplasia type 2 | (Orphanet:93274) |
Thin ribs - tubular bones - dysmorphism | (Orphanet:1506) |
Toriello-Lacassie-Droste syndrome | (Orphanet:3339) |
Triopia | (Orphanet:3374) |
Triploidy | (Orphanet:3376) |
Trismus - pseudocamptodactyly | (Orphanet:3377) |
Trisomy 1q | (Orphanet:261344) |
Trisomy 5p | (Orphanet:1742) |
Walker-Warburg syndrome | (Orphanet:899) |
Weaver syndrome | (Orphanet:3447) |
Wiedemann-Rautenstrauch syndrome | (Orphanet:3455) |
X-linked centronuclear myopathy | (Orphanet:596) |
X-linked dominant chondrodysplasia, Chassaing-Lacombe type | (Orphanet:163966) |
X-linked epilepsy - learning disabilities - behavior disorders | (Orphanet:85294) |
X-linked intellectual deficit - cerebellar hypoplasia | (Orphanet:137831) |
X-linked intellectual deficit with marfanoid habitus | (Orphanet:776) |
X-linked intellectual disability due to GRIA3 anomalies | (Orphanet:364028) |
Zellweger syndrome | (Orphanet:912) |
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME | (OMIM:601321) |