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

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OMIM® 57 618659 MeSH 44 D065886 MedGen 41 C5231448 CN262874

SNOMED-CT via HPO 68 103276001 111266001 11934000 122480009 128613002 14582003 14760008 15188001 162294008 194021007 197659005 197811007 204043002 204878001 204888000 205145001 22006008 224958001 225595004 228156007 229721007 23986001 246545002 246799009 246800008 247578003 248004009 249321001 249765007 249768009 263681008 276617005 278849000 29164008 298181000 313307000 32958008 343087000 387742006 391987005 40159009 406506008 415692008 418143002 43476002 444896005 52522001 59576002 60318001 61372001 62415009 64217002 7461003 82649003 83330001 84757009 91138005 91175000 92828000 93390002 95515009 95646004 95828007 more EFO 17 EFO_0010659

OMIM® : ⁵⁷ 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) (Updated 05-Mar-2021)

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, and related phenotypes are intellectual disability and hearing impairment

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 (Updated 05-Mar-2021)

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.