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Molecular Syndromology 2023, Vol. 14, No. 6

Commentary

Mol Syndromol (2023) 14 (6): 457–458. https://doi.org/10.1159/000531506
Mol Syndromol (2023) 14 (6): 459–460. https://doi.org/10.1159/000531668

Original Article

Mol Syndromol (2023) 14 (6): 461–468. https://doi.org/10.1159/000530625
Mol Syndromol (2023) 14 (6): 469–476. https://doi.org/10.1159/000531069
Mol Syndromol (2023) 14 (6): 477–484. https://doi.org/10.1159/000531507
Mol Syndromol (2023) 14 (6): 485–492. https://doi.org/10.1159/000531439

Novel Insights from Clinical Practice

Mol Syndromol (2023) 14 (6): 493–497. https://doi.org/10.1159/000530586
Established Facts

  • Pathogenic variants in the SYT1 gene cause a rare, complex neurodevelopmental disorder.

  • Epilepsy is present in a minority of cases.

Mol Syndromol (2023) 14 (6): 498–503. https://doi.org/10.1159/000530798
Established Facts

  • Schneckenbecken dysplasia (SBD) is a rare skeletal dysplasia with only a few reported cases.

  • SBD has severe skeletal findings and results in death in the prenatal and early postnatal periods.

Mol Syndromol (2023) 14 (6): 504–508. https://doi.org/10.1159/000531408
Established Facts

  • Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in TTC37 and SKIVL2 genes. Clinical features of THES are intractable diarrhea, facial dysmorphism, hair abnormality, immunodeficiency, and skin abnormalities.

  • Lipoid proteinosis (LP) is characterized by persistent voice hoarseness and skin changes, such as fragility, infiltrated papules and nodules over the skin, and mucosae. LP is caused by biallelic pathogenic variants in ECM1 gene.

Mol Syndromol (2023) 14 (6): 509–515. https://doi.org/10.1159/000531429
Established Facts

  • Fanconi anemia (FA) is a rare, multisystem disorder which is characterized by bone marrow failure, congenital malformations, predisposition to malignancy, and short stature.

  • FA is a genetically heterogenous disease with more than twenty related phenotypes and genes identified so far.

  • The RFWD3 gene was recently related to FA complementation group W, and only 1 patient is reported in the literature so far.

Mol Syndromol (2023) 14 (6): 516–522. https://doi.org/10.1159/000531566

• Mutations in SOX10 gene result in Waardenburg syndrome.

Mol Syndromol (2023) 14 (6): 523–529. https://doi.org/10.1159/000531715

• Patients with DDX3X syndrome show variable clinical features with different degrees of intellectual disability and/or developmental delay, hypotonia, epilepsy, movement disorders, autism spectrum disorder, and aggressiveness.

• Brain imaging of these cases showed corpus callosum hypoplasia, ventricular enlargement, and polymicrogyria. Moreover, few cases showed small anterior commissure, small pons, and small inferior vermis.

Mol Syndromol (2023) 14 (6): 530. https://doi.org/10.1159/000534746
Mol Syndromol (2023) 14 (6): 531–536. https://doi.org/10.1159/000535256
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