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GTR Home > Conditions/Phenotypes > Neurofacioskeletal syndrome with or without renal agenesis

Neurofacioskeletal syndrome with or without renal agenesis

Synonyms
NEURODEVELOPMENTAL DISORDER WITH CORPUS CALLOSUM AGENESIS, CRANIOFACIAL DYSMORPHISM, AND SKELETAL ANOMALIES, WITH OR WITHOUT RENAL AGENESIS

Summary

Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) is characterized by developmental delay and/or intellectual disability; corpus callosum hypoplasia or agenesis; facial dysmorphism, including upslanting palpebral fissures, broad nasal tip, and wide mouth; and skeletal abnormalities, including short stature, scoliosis, and flexion contractures, with broad fingertips and/or toes. Renal agenesis, unilateral or bilateral, has also been observed in some patients (Schneeberger et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: NFSRA, dJ604K5.2, HS2ST1
    Summary: heparan sulfate 2-O-sulfotransferase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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