Cobblestone lissencephaly without muscular or ocular involvement- MedGen UID:
- 767571
- •Concept ID:
- C3554657
- •
- Disease or Syndrome
Lissencephaly-5 (LIS5) is an autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development (Radmanesh et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).
Complex cortical dysplasia with other brain malformations 3- MedGen UID:
- 815744
- •Concept ID:
- C3809414
- •
- Disease or Syndrome
Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene.
Complex cortical dysplasia with other brain malformations 4- MedGen UID:
- 815750
- •Concept ID:
- C3809420
- •
- Disease or Syndrome
Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.
Van Maldergem syndrome 2- MedGen UID:
- 816205
- •Concept ID:
- C3809875
- •
- Disease or Syndrome
Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by Cappello et al., 2013).
For a discussion of genetic heterogeneity of Van Maldergem syndrome, see 601390.
Complex cortical dysplasia with other brain malformations 6- MedGen UID:
- 862720
- •Concept ID:
- C4014283
- •
- Disease or Syndrome
Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene.
Band heterotopia of brain- MedGen UID:
- 924885
- •Concept ID:
- C4284594
- •
- Disease or Syndrome
Band heterotopia (BH) is a neuronal migration disorder in which aberrantly located neurons, in the form of a band in the brain white matter, are present below a cortex that appears relatively normal by magnetic resonance imaging (MRI). Clinically, patients show severe developmental delay with intellectual disability, seizures, hypotonia, and hydrocephalus (Kielar et al., 2014, Shaheen et al., 2017).
Van Maldergem syndrome 1- MedGen UID:
- 1644627
- •Concept ID:
- C4551950
- •
- Disease or Syndrome
Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by Cappello et al., 2013).
Genetic Heterogeneity of Van Maldergem Syndrome
See also VMLDS2 (615546), caused by mutation in the FAT4 gene (612411) on chromosome 4q28.
Lissencephaly due to LIS1 mutation- MedGen UID:
- 1657090
- •Concept ID:
- C4749301
- •
- Congenital Abnormality
PAFAH1B1-related lissencephaly/subcortical band heterotopia (SBH) comprises a spectrum of severity. Affected newborns typically have mild-to-moderate hypotonia, feeding difficulties, and poor head control. During the first years, neurologic examination typically demonstrates poor visual tracking and response to sounds, axial hypotonia, and mild distal spasticity that can transition over time to more severe spasticity. Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. In individuals with PAFAH1B1-related lissencephaly/SBH, developmental delay ranges from mild to severe. Other findings in PAFAH1B1-related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression.
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures- MedGen UID:
- 1684879
- •Concept ID:
- C5231486
- •
- Disease or Syndrome
Complex cortical dysplasia with other brain malformations-15 (CDCBM15) is an autosomal recessive neurologic disorder characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development. Brain imaging shows variable malformation of cortical development on the lissencephaly spectrum, mainly pachygyria and thin corpus callosum (summary by Mitani et al., 2019).
For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).