Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies (NEDDFSA)

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OMIM 56 618659 MeSH 43 D065886

MedGen 41 CN262874 EFO 17 EFO_0010659

OMIM : ⁵⁶ Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a global neurodevelopmental disorder with highly variable features. Patients often show poor feeding, poor overall growth, and hypotonia from early infancy, followed by mildly delayed motor development, poor language acquisition, and behavioral abnormalities. Intellectual development varies from severe with absent speech to mild with the ability to attend special schools. Common features include dysmorphic facial features with notable eye anomalies, joint hypermobility, and mild skeletal anomalies of the hands and feet (summary by Carapito et al., 2019). (618659)

MalaCards based summary : Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies, is also known as neddfsa. An important gene associated with Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies is ZMIZ1 (Zinc Finger MIZ-Type Containing 1). Affiliated tissues include eye, brain and heart.

UniProtKB/Swiss-Prot : ⁷³ Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies: An autosomal dominant disorder characterized by intellectual disability, developmental delay, poor language acquisition, behavioral abnormalities, growth failure, feeding difficulties, microcephaly, facial dysmorphism, and mild skeletal anomalies of the hands and feet.

Clinical features from OMIM:

618659

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies.