NEDDFSA
MCID: NRD083
MIFTS: 21

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

Categories: Bone diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

MalaCards integrated aliases for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies:

Name: Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies 56 73 6 17
Neddfsa 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
highly variable phenotype
de novo mutation


Classifications:



External Ids:

OMIM 56 618659
MeSH 43 D065886
MedGen 41 CN262874

Summaries for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

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.

Related Diseases for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
cerebellar atrophy
cerebral atrophy
poor speech
delayed myelination
more
Head And Neck Nose:
anteverted nares
prominent nasal bridge
broad nasal bridge
prominent columella

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias

Head And Neck Ears:
low-set ears
prominent ears
hearing loss (in some patients)

Skeletal:
joint hypermobility

Cardiovascular Heart:
patent ductus arteriosus
congenital heart defects (in some patients)
septal defects
abnormal mitral valve

Skeletal Feet:
hallux valgus
toe syndactyly, 2-3
broad halluces
short toes
club foot
more
Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
aggression
behavioral abnormalities
adhd

Growth Other:
poor overall growth

Genitourinary Kidneys:
renal pelviectasis
atrophic kidney

Head And Neck Eyes:
hypertelorism
ptosis
glaucoma
amblyopia
astigmatism
more
Abdomen Gastrointestinal:
feeding difficulties
constipation

Head And Neck Face:
micrognathia
facial hypotonia
midface hypoplasia
long smooth philtrum
dysmorphic facies, variable

Head And Neck Mouth:
wide mouth
small mouth
cupid's bow

Skeletal Hands:
brachydactyly
long fingers
short fingers
tapered fingers
coned epiphyses

Genitourinary Bladder:
vesicoureteral reflux

Muscle Soft Tissue:
hypotonia

Skeletal Spine:
scoliosis (in some patients)

Genitourinary:
genitourinary anomalies, variable (in some patients)

Clinical features from OMIM:

618659

Drugs & Therapeutics for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

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

Genetic Tests for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Anatomical Context for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies:

40
Eye, Brain, Heart, Kidney

Publications for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Articles related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies:

# Title Authors PMID Year
1
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. 6 56
30639322 2019

Variations for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZMIZ1 NM_020338.4(ZMIZ1):c.899C>T (p.Thr300Met)SNV Pathogenic 694588 10:81052055-81052055 10:79292298-79292298
2 ZMIZ1 NM_020338.4(ZMIZ1):c.3112dup (p.Thr1038fs)duplication Pathogenic 694589 10:81072413-81072414 10:79312656-79312657
3 ZMIZ1 NM_020338.4(ZMIZ1):c.887C>A (p.Thr296Lys)SNV Pathogenic 694591 10:81052043-81052043 10:79292286-79292286
4 ZMIZ1 NM_020338.4(ZMIZ1):c.3097-2A>GSNV Pathogenic 694592 10:81072397-81072397 10:79312640-79312640
5 ZMIZ1 NM_020338.4(ZMIZ1):c.1386dup (p.Thr463fs)duplication Pathogenic 694593 10:81056377-81056378 10:79296620-79296621
6 ZMIZ1 NM_020338.4(ZMIZ1):c.272A>G (p.Lys91Arg)SNV Likely pathogenic 487354 rs1554817910 10:80976023-80976023 10:79216266-79216266
7 ZMIZ1 NM_020338.4(ZMIZ1):c.773C>T (p.Pro258Leu)SNV Likely benign 869150 rs763408424 10:81051929-81051929 10:79292172-79292172

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies:

73
# Symbol AA change Variation ID SNP ID
1 ZMIZ1 p.Lys91Arg VAR_083438
2 ZMIZ1 p.Thr296Ile VAR_083440
3 ZMIZ1 p.Thr296Lys VAR_083441
4 ZMIZ1 p.Thr298Ile VAR_083442
5 ZMIZ1 p.Thr300Met VAR_083443

Expression for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

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

Pathways for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

GO Terms for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Sources for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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