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Abnormality of brain morphology

MedGen UID:: 866738
•Concept ID:: C4021085
•: Anatomical Abnormality

Synonyms:	Abnormal shape of brain; Abnormality of the brain

HPO:	HP:0012443

Definition

A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Abnormality of brain morphology

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Congenital abnormality
  - Abnormality of the nervous system
    - Abnormal nervous system morphology
      - Morphological central nervous system abnormality
        Abnormality of brain morphology
        Abnormal brainstem morphology
        Abnormal brainstem MRI signal intensity
        Focal T2 hyperintense brainstem lesion
        Focal T2 hypointense brainstem lesion
        T2 hypointense brainstem
        Abnormal brainstem white matter morphology
        Abnormal cerebellar peduncle morphology
        Brain stem compression
        Brainstem dysplasia
        Enlarged brainstem
        Enlarged tectum
        Kinked brainstem
        Midline cervical cleft
        Abnormal cerebral ventricle morphology
        Abnormal choroid plexus morphology
        Choroid plexus calcification
        Choroid plexus cyst
        Villous hypertrophy of choroid plexus
        Abnormal fourth ventricle morphology
        Dilated fourth ventricle
        Abnormal lateral ventricle morphology
        Colpocephaly
        Lateral ventricle dilatation
        Abnormal third ventricle morphology
        Absence of the third cerebral ventricle
        Colloid cyst of third ventricle
        Dilated third ventricle
        Aqueductal stenosis
        Cerebral ventricular adhesions
        Lateral ventricular asymmetry
        Ventriculomegaly
        Enlarged fossa interpeduncularis
        Enlarged sylvian cistern
        Progressive ventriculomegaly
        Abnormal forebrain morphology
        Abnormal cerebral morphology
        Abnormal cerebral cortex morphology
        Abnormal cerebral subcortex morphology
        Abnormal diffusion weighted cerebral MRI morphology
        Abnormal septum pellucidum morphology
        Cerebral edema
        Cerebral inclusion bodies
        Cerebral infarct
        Encephalomalacia
        Leukoencephalopathy
        Megalencephaly
        Porencephalic cyst
        Schilder disease
        Schizencephaly
        Abnormal morphology of the limbic system
        Abnormal amygdala morphology
        Abnormal hippocampus morphology
        Abnormal morphology of the olfactory bulb
        Aplasia of the olfactory bulb
        Hypoplasia of the olfactory bulb
        Abnormality of olfactory lobe morphology
        Hypoplastic olfactory lobes
        Olfactory lobe agenesis
        Abnormality of the diencephalon
        Abnormal hypothalamus morphology
        Abnormality of thalamus morphology
        Aplasia of the olfactory tract
        Abnormal hindbrain morphology
        Abnormal medulla oblongata morphology
        Olivary degeneration
        Abnormal metencephalon morphology
        Abnormal cerebellum morphology
        Abnormal pons morphology
        Poorly formed metencephalon
        Abnormal midbrain morphology
        Abnormal red nucleus morphology
        Abnormal substantia nigra morphology
        Focal substantia nigra T2 hyperintensity
        Iron accumulation in substantia nigra
        Substantia nigra gliosis
        Substantia nigra hypointensity on susceptibility-weighted imaging
        Thinning of the substantia nigra pars compacta
        Aplasia/Hypoplasia of the midbrain
        Absent mesencephalon
        Hypoplasia of the midbrain
        Face of the giant panda sign
        Molar tooth sign on MRI
        Abnormality of the pituitary gland
        Abnormal size of pituitary gland
        Enlarged pituitary gland
        Small pituitary gland
        Abnormal thyroid-stimulating hormone level
        Decreased thyroid-stimulating hormone level
        Elevated circulating thyroid-stimulating hormone concentration
        Inappropriately normal thyroid-stimulating hormone level
        Abnormality of the anterior pituitary
        Anterior pituitary dysgenesis
        Ectopic anterior pituitary gland
        Hyperpituitarism
        Hypopituitarism
        Pituitary resistance to thyroid hormone
        Abnormality of the posterior pituitary
        Central diabetes insipidus
        Neoplasm of the posterior pituitary
        Posterior pituitary dysgenesis
        Diabetes insipidus
        Adipsic Diabetes Insipidus
        Dipsogenic diabetes insipidus
        Nephrogenic diabetes insipidus
        Wolfram syndrome
        Empty sella syndrome
        Hypophysitis
        Primary hypophysitis
        Inappropriate antidiuretic hormone secretion
        Neoplasm of the pituitary gland
        Anterior Pituitary Gland Neoplasm
        Benign neoplasm of pituitary gland
        Neoplasm of the anterior pituitary
        Pituitary cancer
        Pituitary carcinoma
        Pituitary corticotropic cell adenoma
        Pituitary Gland Gangliocytoma
        Pituitary Gland Paraganglioma
        Prolactin-producing pituitary gland adenoma
        Prolactinoma
        Somatotroph Adenoma
        Non-Neoplastic Pituitary Gland Disorder
        Ectopic posterior pituitary
        Lymphocytic Neurohypophysitis
        Necrosis of pituitary
        Pituitary apoplexy
        Pituitary gland hypoplasia
        Pituitary gland infarction
        Bilirubin encephalopathy
        Acute bilirubin encephalopathy
        Chronic bilirubin encephalopathy
        Kernicterus due to isoimmunization
        Brain atrophy
        Atrophy/Degeneration affecting the cerebrum
        Atrophy/Degeneration involving the caudate nucleus
        Cerebral atrophy
        Cerebral cortical neurodegeneration
        Cerebral degeneration
        Subcortical cerebral atrophy
        Global brain atrophy
        Holoprosencephaly sequence
        Agnathia-otocephaly complex
        Alobar holoprosencephaly
        Chromosome 1q41-q42 deletion syndrome
        Ethmocephaly
        Hartsfield-Bixler-Demyer syndrome
        Holoprosencephaly 1
        Holoprosencephaly 2
        Holoprosencephaly 3
        Holoprosencephaly 4
        Holoprosencephaly 5
        Holoprosencephaly 6
        Holoprosencephaly 7
        Holoprosencephaly 8
        Holoprosencephaly 9
        Holoprosencephaly caudal dysgenesis
        Holoprosencephaly deletion 2p
        Holoprosencephaly ectrodactyly cleft lip palate
        Holoprosencephaly radial heart renal anomalies
        Holoprosencephaly, recurrent infections, and monocytosis
        Holoprosencephaly-craniosynostosis syndrome
        Holoprosencephaly-hypokinesia-congenital contractures syndrome
        Holoprosencephaly-postaxial polydactyly syndrome
        Lambotte syndrome
        Lobar holoprosencephaly
        Midline interhemispheric variant of holoprosencephaly
        NODAL-Related Holoprosencephaly
        Semilobar holoprosencephaly
        Septopreoptic holoprosencephaly
        Syntelencephaly
        Iron accumulation in brain
        Eye of the tiger anomaly of globus pallidus

Conditions with this feature

Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures

MedGen UID:: 1684757
•Concept ID:: C5231470
•: Disease or Syndrome

Neurodevelopmental disorder with nonspecific brain abnormalities is a highly variable syndrome characterized by impaired intellectual development and behavioral abnormalities associated with structural changes on brain imaging. Some patients have seizures, hypotonia, and scoliosis/kyphosis. Cognitive function ranges from severely impaired to the ability to attend schools with special assistance (summary by Fischer-Zirnsak et al., 2019).

See: Condition Record

Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures

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Abnormality of brain morphology

Definition

Term Hierarchy

Conditions with this feature

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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