Developmental Malformations

Browse Articles, recent Forum and News posts, Patient Handouts, External Resources, and Featured Images and Videos concerned with developmental malformations.

In the Spotlight

Chiari malformation
Hereditary spastic paraplegia

Neural Induction & Neurulation Errors

Ectopic neurohypophysis
Meckel-Gruber syndrome
Sacral agenesis
Split cord malformation

Midline Defects

Acrocallosal syndrome
Agenesis of the corpus callosum
Andermann syndrome
Dermoid and epidermoid tumors
Kallmann syndrome
Olfactory bulb agenesis, hypoplasias, and dysplasias
Oral-facial-digital syndromes
Pituitary aplasia and dysplasia
Sacral agenesis
Septo-optic-pituitary dysplasia complex
Split cord malformation
Tethered spinal cord
X-linked hydrocephalus (L1 syndrome)

Neuroblast Migration Errors

Focal cortical dysplasia
Periventricular nodular heterotopia
Subcortical laminar heterotopia
Walker-Warburg syndrome

Posterior Fossa Defects

Cerebellar hypoplasia, dysplasia, and enlargement
Chiari malformation
Dandy-Walker syndrome
Joubert syndrome
Klippel-Feil syndrome
Pontocerebellar hypoplasia

Primary Cytological Dysgenesis

Dysplastic gangliocytoma of the cerebellum
Epidermal nevus syndrome
Hypomelanosis of Ito
Osteogenesis imperfecta type II: cerebral dysgenesis
Tuberous sclerosis complex

Craniospinal Deformities

22q11.2 deletion syndrome
Atlantoaxial dislocation
Barth syndrome
Basilar impression
Cerebro-oculo-facio-skeletal syndrome
Choroid plexus tumors of childhood
Dandy-Walker syndrome
Down syndrome
Fetal alcohol syndrome
Fetal anticonvulsant syndrome
Klippel-Feil syndrome
Mobius syndrome
Potter sequence
Sotos syndrome
Waardenburg syndrome
Yunis-Varon syndrome

Developmental Disorders of Muscle

2-Hydroxyglutaric acidurias
Barth syndrome
Central core disease
Congenital muscle fiber-type disproportion
Congenital muscular dystrophies
Congenital muscular dystrophy: merosin deficient form
Desmin body myofibrillar myopathy
Fingerprint body myopathy
Minicore myopathy
Myotonic muscular dystrophy (neonatal)
Nemaline myopathy
Reducing body myopathy
Ullrich congenital muscular dystrophy
Walker-Warburg syndrome
X-linked myotubular myopathy

Related Topics

Aicardi syndrome
Aicardi-Goutieres syndrome
Cavum septi pellucidi and cavum vergae
Congenital cytomegalovirus
Congenital rubella
Ependymal cysts
Incontinentia pigmenti
Norrie disease
Prader-Willi syndrome
Rett syndrome


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See what's being published in neurology and the neurosciences.

Experimental therapy for Prader-Willi syndrome shows promise in mice
Dec 27, 2016
Drugs capable of activating silenced genes, namely UNC0638 and UNC0642, were found to improve survival and growth outcomes in a mouse model of Prader-Willi syndrome according to a study funded by the National Institutes of Health.
Findings in tuberous sclerosis complex on the role of inflammation and epilepsy
Dec 20, 2016
A preclinical study provides a proof-of-concept suggesting that anti-inflammatory treatment could be a potential therapy for epilepsy in tuberous sclerosis patients. The study found rapamycin minimally corrected some brain tissue abnormalities in a mouse model, but, more importantly, there was a small decrease in seizure development and slightly improved survival in the mice.
Microcephaly discoveries made in non-Zika cases help explain abnormal brain growth
Aug 05, 2016
In 2 new papers in the American Journal of Human Genetics, researchers report new findings about a key protein - CIT - involved in the process that generates the many new cells required to build a normal size brain. Though the new studies didn't involve Zika-related microcephaly, they may provide clues that other scientists can use to investigate how Zika virus disrupts brain development, and my also provide insight into what is required for brains to develop normally.
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Patient Handouts

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Agenesia del cuerpo calloso
Aicardi-Goutieres syndrome
Cerebro-Oculo-Facio-Skeletal Syndrome
Chiari malformation
Espina bifida (Spanish)
Klippel-Feil syndrome
Malformaciones de Chiari (Spanish)
Síndrome de Sturge-Weber (Spanish)
Spina bifida
Sturge-Weber syndrome


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