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Macrocephaly

DA: 70

Developmental anomaly information

Definition: Macrocephaly refers to a head circumference greater than two standard deviations above the mean for age, sex, race and gestation.

Synonyms:

Megalencephaly

Developmental anomaly parent: Trigonocephaly	Topology: Human body > Head and neck > Head
System: Human body > Nervous system	Developmental anomaly category: Malformation

Case records MDB7, MDB47, MDB50, MDB66, MDB69, MDB70, MDB77, MDB100, MDB125, MDB193, MDB202, MDB208, MDB217, MDB228, MDB60, MDB358, MDB379, MDB437, MDB442

Links

Observed in MDB cases

In malformative diseases :

Achondroplasia

Observed in combinaisons (MDB)

Observed in malformative diseases (MDB)

() in case MDB

Associated genes in profile

Associated genes in malformative diseases

Associated chromosomal diseases

Associated signaling pathways

Associated developmental anomalies

Here is the list of developmental anomalies associated with this developmental anomaly, based on the cases' information :

Facial dysmorphism 5% (10/200 anomalies), in cases MDB47, MDB50, MDB70, MDB100, MDB125, MDB193, MDB202, MDB217, MDB358, MDB437
Hypertelorism 4% (8/200 anomalies), in cases MDB47, MDB50, MDB69, MDB100, MDB125, MDB193, MDB217, MDB358
Low-set ears 4% (8/200 anomalies), in cases MDB47, MDB66, MDB69, MDB70, MDB100, MDB217, MDB60, MDB437
Pulmonary hypoplasia 3.5% (7/200 anomalies), in cases MDB50, MDB69, MDB77, MDB100, MDB125, MDB202, MDB379
Hydrocephalus 3% (6/200 anomalies), in cases MDB47, MDB100, MDB202, MDB217, MDB60, MDB442
Cerebral ventriculomegaly 2.5% (5/200 anomalies), in cases MDB7, MDB69, MDB193, MDB217, MDB60
Placenta hypoplasia 2.5% (5/200 anomalies), in cases MDB47, MDB100, MDB208, MDB358, MDB379
Retrognathia 2% (4/200 anomalies), in cases MDB50, MDB100, MDB358, MDB437
Broad nasal bridge 1.5% (3/200 anomalies), in cases MDB47, MDB50, MDB100
Low nasal bridge 1.5% (3/200 anomalies), in cases MDB66, MDB69, MDB208
Flattened nose 1.5% (3/200 anomalies), in cases MDB66, MDB100, MDB193
Intestinal malrotation 1.5% (3/200 anomalies), in cases MDB100, MDB125, MDB379
Prominent and pointed nose 1.5% (3/200 anomalies), in cases MDB202, MDB217, MDB437
Exophthalmos, bilateral 1% (2/200 anomalies), in cases MDB47, MDB358
Talipes equinovarus, bilateral 1% (2/200 anomalies), in cases MDB50, MDB193
Thanatophoric dysplasia (Type I) 1% (2/200 anomalies), in cases MDB66, MDB77
Narrow thorax 1% (2/200 anomalies), in cases MDB66, MDB358
Lymphedema of the neck 1% (2/200 anomalies), in cases MDB66, MDB70
Hypogenesis of the Cerebellar Vermis 1% (2/200 anomalies), in cases MDB69, MDB60
Dandy-Walker malformation 1% (2/200 anomalies), in cases MDB69, MDB202
Clindodactyly of 5th finger, bilateral 1% (2/200 anomalies), in cases MDB69, MDB217
Omphalocele 1% (2/200 anomalies), in cases MDB70, MDB100
Frontal bossing 1% (2/200 anomalies), in cases MDB70, MDB202
Single umblical artery (SUA)-Isolated 1% (2/200 anomalies), in cases MDB70, MDB358
Epicanthus 1% (2/200 anomalies), in cases MDB125, MDB217
Microtia 1% (2/200 anomalies), in cases MDB202, MDB60
Micrognathia 1% (2/200 anomalies), in cases MDB217, MDB60
Cerebellar hypoplasia 1% (2/200 anomalies), in cases MDB60, MDB442
Polyhydramnios 0.5% (1/200 anomalies), in case MDB7
Tetra-amelia 0.5% (1/200 anomalies), in case MDB47
Lumbosacral agenesis 0.5% (1/200 anomalies), in case MDB47
Thin upper lip 0.5% (1/200 anomalies), in case MDB47
Hitchhiker thumb 0.5% (1/200 anomalies), in case MDB50
Bowing of long bones of leg, congenital 0.5% (1/200 anomalies), in case MDB50
Dislocation of the radial head, congenital 0.5% (1/200 anomalies), in case MDB50
Diastrophic Dysplasia 0.5% (1/200 anomalies), in case MDB50
Limbs hypoplasia 0.5% (1/200 anomalies), in case MDB50
Platyspondyly 0.5% (1/200 anomalies), in case MDB66
Cleft lip, unilateral 0.5% (1/200 anomalies), in case MDB69
Syndactyly, simple (webbed), fingers 0.5% (1/200 anomalies), in case MDB69
Fingers amputation 0.5% (1/200 anomalies), in case MDB69
Holoprosencephaly 0.5% (1/200 anomalies), in case MDB69
Nasal hypoplasia 0.5% (1/200 anomalies), in case MDB69
Neck edema 0.5% (1/200 anomalies), in case MDB69
Sloping forehead 0.5% (1/200 anomalies), in case MDB69
Constriction Ring Deformity of the upper limbs 0.5% (1/200 anomalies), in case MDB69
Syndactyly of the toes, complex, bilateral 0.5% (1/200 anomalies), in case MDB69
Constriction Ring Deformity of the lower limbs 0.5% (1/200 anomalies), in case MDB69
Ring constriction deformity of the toes 0.5% (1/200 anomalies), in case MDB69
Toes amputation 0.5% (1/200 anomalies), in case MDB69
Pterygium colli 0.5% (1/200 anomalies), in case MDB69
Nasal asymetria 0.5% (1/200 anomalies), in case MDB69
Gracile ribs 0.5% (1/200 anomalies), in case MDB69
Bowing of femur, congenital 0.5% (1/200 anomalies), in case MDB69
Retroplacental hemorrhage 0.5% (1/200 anomalies), in case MDB70
Femural hypoplasia, bilateral 0.5% (1/200 anomalies), in case MDB77
Diaphragmatic hernia, congenital 0.5% (1/200 anomalies), in case MDB100
Overlapping fingers 0.5% (1/200 anomalies), in case MDB100
Renal focal cystic dilatation of collecting tubules 0.5% (1/200 anomalies), in case MDB100
Atrioventricular - channel 0.5% (1/200 anomalies), in case MDB125
Coarctation of aorta, 0.5% (1/200 anomalies), in case MDB125
Hypoplasia of the aortic isthmus 0.5% (1/200 anomalies), in case MDB125
Defective developement of left ventricle 0.5% (1/200 anomalies), in case MDB125
Nonimmune hydrops fetalis (NIHF) 0.5% (1/200 anomalies), in case MDB125
Transverse palmar crease, bilateral 0.5% (1/200 anomalies), in case MDB125
Dilatation of ureter , bilateral, congenital 0.5% (1/200 anomalies), in case MDB125
Tonsillar herniation of the cerebellum 0.5% (1/200 anomalies), in case MDB193
Relative Macrocephaly 0.5% (1/200 anomalies), in case MDB193
Arnold-Chiari Type II malformation (CM II) 0.5% (1/200 anomalies), in case MDB193
Myelomeningocele, lumbosacral 0.5% (1/200 anomalies), in case MDB193
Beaked midbrain 0.5% (1/200 anomalies), in case MDB193
Rachischisis 0.5% (1/200 anomalies), in case MDB193
Arthrogryposis 0.5% (1/200 anomalies), in case MDB193
Right bilobate lung 0.5% (1/200 anomalies), in case MDB193
Unilobate lung, unilateral 0.5% (1/200 anomalies), in case MDB202
Congenitally Corrected Transposition of the Great Arteries 0.5% (1/200 anomalies), in case MDB202
Interauricular communication 0.5% (1/200 anomalies), in case MDB202
Right atrium Enlargement 0.5% (1/200 anomalies), in case MDB208
Tetralogy of Fallot 0.5% (1/200 anomalies), in case MDB208
Pulmonary valve hypoplasia, congenital 0.5% (1/200 anomalies), in case MDB208
Pulmonary artery hypoplasia 0.5% (1/200 anomalies), in case MDB208
Right ventricular hypertrophy 0.5% (1/200 anomalies), in case MDB208
Dilatation of the ascending aorta, congenital 0.5% (1/200 anomalies), in case MDB208
Patent Foramen Ovale 0.5% (1/200 anomalies), in case MDB208
Persistent truncus arteriosus 0.5% (1/200 anomalies), in case MDB208
Imperforate Anus 0.5% (1/200 anomalies), in case MDB208
Microretrognathia 0.5% (1/200 anomalies), in case MDB208
Abnormal vertebral segmentation 0.5% (1/200 anomalies), in case MDB208
Infarcted placenta 0.5% (1/200 anomalies), in case MDB208
Prominence of nasofrontal angle 0.5% (1/200 anomalies), in case MDB217
Polymicrogyria, diffuse 0.5% (1/200 anomalies), in case MDB228
Microcephaly 0.5% (1/200 anomalies), in case MDB60
Semilobar holoprosencephaly 0.5% (1/200 anomalies), in case MDB60
Large anterior fontanelle 0.5% (1/200 anomalies), in case MDB60
Badly-hemmed ears 0.5% (1/200 anomalies), in case MDB60
Cleft palate with cleft lip (CLP), median 0.5% (1/200 anomalies), in case MDB60
Deep gray nuclear malformations(the caudate nuclei, thalami,..) 0.5% (1/200 anomalies), in case MDB60
Preauricular hamartoma 0.5% (1/200 anomalies), in case MDB60
Cryptophthalmos 0.5% (1/200 anomalies), in case MDB60
Polydactyly of the hand, preaxial 0.5% (1/200 anomalies), in case MDB60
Flexion contracture of upper limbs 0.5% (1/200 anomalies), in case MDB60
Dysplastic kidney with tubular cysts 0.5% (1/200 anomalies), in case MDB60
absence of nasal septum 0.5% (1/200 anomalies), in case MDB60
Hypoplasia of eye 0.5% (1/200 anomalies), in case MDB60
skin hamartoma 0.5% (1/200 anomalies), in case MDB60
Aqueduct of Sylvius atresia 0.5% (1/200 anomalies), in case MDB60
Cerebral commissures agenesis 0.5% (1/200 anomalies), in case MDB60
Intrauterine growth retardation, symmetric 0.5% (1/200 anomalies), in case MDB358
Triploidy, Maternal, nonmolar (triploidy by digyny) 0.5% (1/200 anomalies), in case MDB358
Aglossia 0.5% (1/200 anomalies), in case MDB358
Syndactyly of the fingers, complex, bilateral 0.5% (1/200 anomalies), in case MDB358
Renal agenesis, unilateral 0.5% (1/200 anomalies), in case MDB358
Ureteral duplication, complete, unilateral 0.5% (1/200 anomalies), in case MDB358
Unilobate lung, bilateral 0.5% (1/200 anomalies), in case MDB358
Adrenal hypoplasia, fetal 0.5% (1/200 anomalies), in case MDB358
Dermoid cyst of the ovary 0.5% (1/200 anomalies), in case MDB358
Tracheoesophageal fistula (TEF), and esophageal atresia, Type C 0.5% (1/200 anomalies), in case MDB379
Renal hypoplasia 0.5% (1/200 anomalies), in case MDB379
Renal ectopia, simple 0.5% (1/200 anomalies), in case MDB379
Placenta circumvallata 0.5% (1/200 anomalies), in case MDB379
Cardiac hypoplasia, fetal 0.5% (1/200 anomalies), in case MDB379
Absence of first fingers, bilateral 0.5% (1/200 anomalies), in case MDB379
Dextrocardia, isolated 0.5% (1/200 anomalies), in case MDB437
Triangular face 0.5% (1/200 anomalies), in case MDB437
Wide space between 1st and 2nd toes, bilateral 0.5% (1/200 anomalies), in case MDB437
Nasal Clefts 0.5% (1/200 anomalies), in case MDB437
Intrauterine growth retardation, asymmetric 0.5% (1/200 anomalies), in case MDB442
Pulmonary lobation anomalies 0.5% (1/200 anomalies), in case MDB442
Monochorionic diamniotic placenta 0.5% (1/200 anomalies), in case MDB442
Absence of the Septum Pellucidum 0.5% (1/200 anomalies), in case MDB442

Terminology and coding

References

No reference related to Macrocephaly is available at the moment.

Last modified: 2009-01-05 20:16:07 by farideh

Created: 2008-02-26 00:00:00 by phsaw

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