Microcephaly (definition)

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Microcephaly

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Definition: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)

Other names Microlissencephaly; Microlissencephalies; Microcephalies

Substance	Categories	Source
Mirhosseini-Holmes-Walton syndrome	Intellectual Disability Microcephaly *Retinitis Pigmentosa.
Amish lethal microcephaly	*Microcephaly.
Filippi syndrome	Growth Disorders Intellectual Disability Microcephaly Syndactyly *Facies.
Hersh Podruch Weisskopk syndrome	Abnormalities, Multiple Growth Disorders *Microcephaly.
Paine syndrome	Cerebral Palsy Microcephaly.
Agammaglobulinemia, microcephaly, and severe dermatitis	Agammaglobulinemia Dermatitis *Microcephaly.
CAMFAK syndrome	Cataract Demyelinating Diseases Microcephaly Agenesis of Corpus Callosum.
Boudhina Yedes Khiari syndrome	Epilepsy Growth Disorders Hearing Loss, Sensorineural Intellectual Disability Microcephaly Skin Diseases.
Baraitser Brett Piesowicz syndrome	Brain Diseases Calcinosis *Microcephaly.
Baetz-Greenwalt syndrome	Cleft Palate Heart Defects, Congenital Microcephaly Micrognathism Ear, External.
Aphalangia syndactyly microcephaly	Growth Disorders Microcephaly *Syndactyly Toe Phalanges/abnormalities.	Am J Med Genet. 55(2):213-6
Oculodigitoesophagoduodenal syndrome	Duodenal Obstruction Esophageal Atresia Microcephaly Limb Deformities, Congenital Eyelids/abnormalities.
MacDermot Winter syndrome	Microcephaly Psychomotor Disorders Genitalia, Male/abnormalities.	Am J Med Genet. 32(1):60-2
Lymphedema, microcephaly and chorioretinopathy syndrome	Lymphedema Microcephaly Facies Retinal Dysplasia.
Juberg Hayward syndrome	Cleft Lip Cleft Palate *Microcephaly Thumb/abnormalities.
Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism	Foot Deformities, Congenital Microcephaly Microphthalmos Prognathism.
Battaglia Neri syndrome	Bone Diseases, Developmental Epilepsy Intellectual Disability Microcephaly Face/abnormalities.
Bixler Christian Gorlin syndrome	Cleft Lip Cleft Palate Ear Deformities, Acquired Heart Defects, Congenital *Microcephaly Kidney/abnormalities.
Microcephalic osteodysplastic primordial dwarfism, type 2	Dwarfism Fetal Growth Retardation Microcephaly Osteochondrodysplasias.
Microcephalic osteodysplastic primordial dwarfism, type 1	Dwarfism Fetal Growth Retardation Microcephaly Osteochondrodysplasias.
Osteogenesis imperfecta congenita, microcephaly, and cataracts	Cataract Microcephaly *Osteogenesis Imperfecta.
Microhydranencephaly	Microcephaly Hydranencephaly.
Lambotte syndrome	Fetal Growth Retardation Microcephaly *Holoprosencephaly.
Galloway Mowat syndrome	Hernia, Hiatal Microcephaly *Nephrosis.
Microcephaly, corpus callosum dysgenesis and cleft lip-palate	Cleft Lip Cleft Palate Exophthalmos Intellectual Disability Microcephaly Spasms, Infantile *Agenesis of Corpus Callosum.
Microcephaly with spastic quadriplegia	Microcephaly Quadriplegia.
Microcephaly sparse hair mental retardation seizures	Alopecia Intellectual Disability Microcephaly Seizures.
Microcephaly seizures mental retardation heart disorders	Abnormalities, Multiple Heart Defects, Congenital Intellectual Disability Microcephaly *Seizures Bone and Bones/abnormalities.
Microcephaly pontocerebellar hypoplasia dyskinesia	Microcephaly Olivopontocerebellar Atrophies *Dyskinesias.
Microcephaly nonsyndromal	*Microcephaly.
Microcephaly microphthalmos blindness	Blindness Microcephaly *Microphthalmos.
Microcephaly seizures genital hypoplasia	Microcephaly Seizures *Urogenital Abnormalities.
Microcephaly microcornea syndrome Seemanova type	Cataract Corneal Diseases Eye Abnormalities Growth Disorders Intellectual Disability Microcephaly *Genetic Diseases, X-Linked.
Seemanova Lesny syndrome	Abnormalities, Multiple Cataract/congenital Growth Disorders Hypogonadism Intellectual Disability Microcephaly *Muscle Spasticity.
Seckel syndrome 2	Dwarfism Microcephaly.
Seckel syndrome 1	Dwarfism Microcephaly.
Milner Khallouf Gibson syndrome	Fanconi Anemia Growth Disorders Microcephaly Micrognathism Nose/abnormalities Thumb/abnormalities.
Microphthalmia and mental deficiency	Coloboma Corneal Opacity Microphthalmos Intellectual Disability Microcephaly Brain Diseases, Metabolic, Inborn.
MEHMO syndrome	Epilepsy Hypogonadism Microcephaly Obesity *Mental Retardation, X-Linked Genitalia/abnormalities.
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	Mandibulofacial Dysostosis Intellectual Disability *Microcephaly.
Silengo Lerone Pelizza syndrome	Abnormalities, Multiple Microcephaly Optic Atrophy/congenital Brain Diseases, Metabolic, Inborn Bone and Bones/abnormalities.
Microcephaly deafness syndrome	Facies Deafness Intellectual Disability Microcephaly Ear/abnormalities.
Microcephaly cervical spine fusion anomalies	Growth Disorders Microcephaly Spine/abnormalities.
Microcephaly cardiomyopathy	Cardiomyopathy, Dilated Intellectual Disability *Microcephaly.
Microcephaly autosomal dominant	*Microcephaly.
Microcephaly albinism digital anomalies syndrome	Abnormalities, Multiple Albinism *Microcephaly Fingers/abnormalities.
Microcephalic primordial dwarfism Toriello type	Cataract Dwarfism Intellectual Disability Microcephaly.
Microcephalic osteodysplastic primordial dwarfism, type 3	Dwarfism Fetal Growth Retardation *Microcephaly.
GOMBO syndrome	Growth Disorders Hearing Loss, Conductive Microcephaly Microphthalmos *Brachydactyly.
Sammartino De Crecchio Syndrome	Corneal Dystrophies, Hereditary Ichthyosis Intellectual Disability Microcephaly.	Ophthalmologica 185(4):226-30
Branchial arch syndrome X-linked	Mandibulofacial Dysostosis Microcephaly Hearing Loss Genetic Diseases, X-Linked Ear/abnormalities Neck/abnormalities.
Lowry Wood syndrome	Growth Disorders Intellectual Disability Microcephaly Osteochondrodysplasias.
Kaufman oculocerebrofacial syndrome	Eye Abnormalities Intellectual Disability Microcephaly Limb Deformities, Congenital *Facies.
Mowat-Wilson syndrome	Hirschsprung Disease Facies Intellectual Disability Microcephaly.
Teebi Kaurah syndrome	Hand Deformities, Congenital Microcephaly *Nails, Malformed.
Zerres Rietschel Majewski syndrome	Growth Disorders Intellectual Disability Microcephaly Syndactyly Face/abnormalities.
Winship Viljoen Leary syndrome	Cardiomyopathy, Dilated Intellectual Disability *Microcephaly.
Warburton Anyane Yeboa syndrome	Intellectual Disability Microcephaly Trisomy Chromosome Disorders Mosaicism.
Warburg Sjo Fledelius syndrome	Abnormalities, Multiple Cataract/congenital Hypogonadism Intellectual Disability Microcephaly Optic Atrophy Cornea/abnormalities.	Am J Dis Child. 1993;147(12):1309-12
Schimke X-linked mental retardation syndrome	Deafness Growth Disorders Microcephaly Ophthalmoplegia *Mental Retardation, X-Linked.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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