NEDDFSA
MCID: NRD083
MIFTS: 24

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 57 73 6 17
Neddfsa 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
highly variable phenotype
de novo mutation


HPO:

31
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



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

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.

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

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

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

31 (show top 50) (show all 57)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 hearing impairment 31 very rare (1%) HP:0000365
3 delayed speech and language development 31 very rare (1%) HP:0000750
4 growth delay 31 very rare (1%) HP:0001510
5 pectus excavatum 31 very rare (1%) HP:0000767
6 motor delay 31 very rare (1%) HP:0001270
7 joint hypermobility 31 very rare (1%) HP:0001382
8 seizure 31 very rare (1%) HP:0001250
9 scoliosis 31 HP:0002650
10 ptosis 31 HP:0000508
11 constipation 31 HP:0002019
12 global developmental delay 31 HP:0001263
13 hypertelorism 31 HP:0000316
14 wide nasal bridge 31 HP:0000431
15 smooth philtrum 31 HP:0000319
16 feeding difficulties in infancy 31 HP:0008872
17 cryptorchidism 31 HP:0000028
18 attention deficit hyperactivity disorder 31 HP:0007018
19 micrognathia 31 HP:0000347
20 low-set ears 31 HP:0000369
21 epicanthus 31 HP:0000286
22 short toe 31 HP:0001831
23 wide mouth 31 HP:0000154
24 downslanted palpebral fissures 31 HP:0000494
25 glaucoma 31 HP:0000501
26 narrow mouth 31 HP:0000160
27 upslanted palpebral fissure 31 HP:0000582
28 brachydactyly 31 HP:0001156
29 patent ductus arteriosus 31 HP:0001643
30 vesicoureteral reflux 31 HP:0000076
31 long philtrum 31 HP:0000343
32 amblyopia 31 HP:0000646
33 ventriculomegaly 31 HP:0002119
34 prominent nasal bridge 31 HP:0000426
35 hypospadias 31 HP:0000047
36 hallux valgus 31 HP:0001822
37 short finger 31 HP:0009381
38 midface retrusion 31 HP:0011800
39 tapered finger 31 HP:0001182
40 cone-shaped epiphysis 31 HP:0010579
41 astigmatism 31 HP:0000483
42 hypoplasia of the corpus callosum 31 HP:0002079
43 cerebellar atrophy 31 HP:0001272
44 cerebral atrophy 31 HP:0002059
45 autistic behavior 31 HP:0000729
46 aggressive behavior 31 HP:0000718
47 exaggerated cupid's bow 31 HP:0002263
48 coloboma 31 HP:0000589
49 2-3 toe syndactyly 31 HP:0004691
50 duane anomaly 31 HP:0009921

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
ptosis
hypertelorism
glaucoma
amblyopia
astigmatism
more
Neurologic Central Nervous System:
global developmental delay
cerebellar atrophy
cerebral atrophy
poor speech
delayed myelination
more
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:
behavioral abnormalities
autism spectrum disorder
aggression
adhd

Growth Other:
poor overall growth

Genitourinary Kidneys:
renal pelviectasis
atrophic kidney

Abdomen Gastrointestinal:
constipation
feeding difficulties

Head And Neck Nose:
anteverted nares
prominent nasal bridge
broad nasal bridge
prominent columella

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 (Updated 05-Mar-2021)

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 57
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 rs1589579500 10:81052055-81052055 10:79292298-79292298
2 ZMIZ1 NM_020338.4(ZMIZ1):c.3112dup (p.Thr1038fs) Duplication Pathogenic 694589 rs1589627206 10:81072413-81072414 10:79312656-79312657
3 ZMIZ1 NM_020338.4(ZMIZ1):c.272A>G (p.Lys91Arg) SNV Pathogenic 487354 rs1554817910 10:80976023-80976023 10:79216266-79216266
4 ZMIZ1 NM_020338.4(ZMIZ1):c.887C>A (p.Thr296Lys) SNV Pathogenic 694591 rs1589579476 10:81052043-81052043 10:79292286-79292286
5 ZMIZ1 NM_020338.4(ZMIZ1):c.3097-2A>G SNV Pathogenic 694592 rs1589627138 10:81072397-81072397 10:79312640-79312640
6 ZMIZ1 NM_020338.4(ZMIZ1):c.1386dup (p.Thr463fs) Duplication Pathogenic 694593 rs1589590917 10:81056377-81056378 10:79296620-79296621
7 ZMIZ1 NM_020338.4(ZMIZ1):c.418T>C (p.Ser140Pro) SNV Uncertain significance 995992 10:81037075-81037075 10:79277318-79277318
8 ZMIZ1 NM_020338.4(ZMIZ1):c.773C>T (p.Pro258Leu) SNV Likely benign 869150 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 rs155481791
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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