NEDCFSA
MCID: NRD072
MIFTS: 20

Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities (NEDCFSA)

Categories: Bone diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Coarse Facies and Mild Distal...

MalaCards integrated aliases for Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities:

Name: Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities 56 73 6
Nedcfsa 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation
onset in the first months or years of life


HPO:

31
neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with Coarse Facies and Mild Distal...

OMIM : 56 Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities (NEDCFSA) is a developmental disorder characterized by mildly impaired global development apparent from infancy, poor speech acquisition, hypotonia with early feeding difficulties, mildly delayed walking, and variable behavioral abnormalities, such as autistic features, hyperactivity, or attention deficits. Most individuals have coarse facial features, including prominent forehead, large ears, and wide mouth. Other features may include wide hands, thickened fingers, and cutaneous toe syndactyly, as well as joint hyperlaxity. Mutations occur de novo, such that the disorder occurs sporadically in patients with no family history of a similar disorder (summary by Stolerman et al., 2019). (618505)

MalaCards based summary : Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities, is also known as nedcfsa. An important gene associated with Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities is KDM6B (Lysine Demethylase 6B). Affiliated tissues include heart, and related phenotypes are seizures and dolichocephaly

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities: An autosomal dominant disorder characterized by global developmental delay, variable intellectual disability, poor language acquisition, and dysmorphic facial features including a prominent nasal bridge and coarse features. Some patients manifest autism spectrum disorder. Musculoskeletal features may be present and include widened and thickened hands and fingers, joint hypermobility, clinodactyly of the fifth fingers, and toe syndactyly.

Related Diseases for Neurodevelopmental Disorder with Coarse Facies and Mild Distal...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Coarse Facies and Mild Distal...

Human phenotypes related to Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 seizures 31 very rare (1%) HP:0001250
2 dolichocephaly 31 very rare (1%) HP:0000268
3 pectus excavatum 31 HP:0000767
4 mandibular prognathia 31 HP:0000303
5 macrotia 31 HP:0000400
6 global developmental delay 31 HP:0001263
7 depressed nasal bridge 31 HP:0005280
8 abnormality of the dentition 31 HP:0000164
9 wide nasal bridge 31 HP:0000431
10 thick vermilion border 31 HP:0012471
11 cryptorchidism 31 HP:0000028
12 cafe-au-lait spot 31 HP:0000957
13 prominent forehead 31 HP:0011220
14 full cheeks 31 HP:0000293
15 hyperactivity 31 HP:0000752
16 generalized hypotonia 31 HP:0001290
17 hypermelanotic macule 31 HP:0001034
18 epicanthus 31 HP:0000286
19 telecanthus 31 HP:0000506
20 wide mouth 31 HP:0000154
21 clinodactyly of the 5th finger 31 HP:0004209
22 joint hypermobility 31 HP:0001382
23 round face 31 HP:0000311
24 hemangioma 31 HP:0001028
25 speech apraxia 31 HP:0011098
26 hypoplastic nipples 31 HP:0002557
27 autistic behavior 31 HP:0000729
28 esotropia 31 HP:0000565
29 exotropia 31 HP:0000577

Symptoms via clinical synopsis from OMIM:

56
Chest External Features:
pectus excavatum

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

Head And Neck Face:
prominent forehead
full cheeks
round face
prognathism
coarse dysmorphic facial features, variable

Head And Neck Eyes:
strabismus
telecanthus
esotropia
exotropia
epicanthal folds

Skeletal:
joint hypermobility

Chest Breasts:
hypoplastic nipples

Skeletal Hands:
fifth finger clinodactyly
wide hands
thick fingers

Abdomen External Features:
prominent abdomen

Abdomen Gastrointestinal:
poor feeding in infancy

Head And Neck Neck:
short webbed neck

Skeletal Feet:
2/3 toe syndactyly

Neurologic Central Nervous System:
global developmental delay
speech apraxia
seizures (rare)
verbal dyspraxia
impaired intellectual development, variable
more
Genitourinary External Genitalia Male:
cryptorchidism

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autism spectrum disorder
poor attention

Head And Neck Mouth:
wide mouth
thick lips

Skin Nails Hair Skin:
hemangioma
cafe-au-lait spots
hyperpigmented spots

Muscle Soft Tissue:
hypotonia

Head And Neck Ears:
dysmorphic ears
large ears
simple ears

Head And Neck Teeth:
abnormal dentition

Head And Neck Head:
dolichocephaly (1 patient)

Cardiovascular Heart:
congenital heart defect of the superior vena cava (1 patient)

Clinical features from OMIM:

618505

Drugs & Therapeutics for Neurodevelopmental Disorder with Coarse Facies and Mild Distal...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities

Genetic Tests for Neurodevelopmental Disorder with Coarse Facies and Mild Distal...

Anatomical Context for Neurodevelopmental Disorder with Coarse Facies and Mild Distal...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities:

40
Heart

Publications for Neurodevelopmental Disorder with Coarse Facies and Mild Distal...

Articles related to Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities:

# Title Authors PMID Year
1
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features. 6 56
31124279 2019

Variations for Neurodevelopmental Disorder with Coarse Facies and Mild Distal...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KDM6B NM_001080424.2(KDM6B):c.1081_1082AG[2] (p.Glu362fs)short repeat Uncertain significance 623267 17:7750598-7750601 17:7847276-7847277
2 KDM6B NM_001080424.2(KDM6B):c.3330_3331AG[2] (p.Ser1112fs)short repeat Uncertain significance 623261 17:7752940-7752941 17:7849618-7849619
3 KDM6B NM_001080424.2(KDM6B):c.3730G>T (p.Glu1244Ter)SNV Uncertain significance 623263 rs1567801402 17:7754395-7754395 17:7851077-7851077
4 KDM6B NM_001080424.2(KDM6B):c.3992A>G (p.Asn1331Ser)SNV Uncertain significance 623259 rs1567802147 17:7754843-7754843 17:7851525-7851525
5 KDM6B NM_001080424.2(KDM6B):c.4136A>C (p.Tyr1379Ser)SNV Uncertain significance 623258 rs1567802439 17:7755085-7755085 17:7851767-7851767

Expression for Neurodevelopmental Disorder with Coarse Facies and Mild Distal...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities.

Pathways for Neurodevelopmental Disorder with Coarse Facies and Mild Distal...

GO Terms for Neurodevelopmental Disorder with Coarse Facies and Mild Distal...

Sources for Neurodevelopmental Disorder with Coarse Facies and Mild 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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