NEDCFSA
MCID: NRD072
MIFTS: 15

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 57 6
Nedcfsa 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 57 618505

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

OMIM : 57 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.

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

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

Symptoms via clinical synopsis from OMIM:

57
Chest External Features:
pectus excavatum

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autism spectrum disorder
poor attention

Genitourinary External Genitalia Male:
cryptorchidism

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
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

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:

41
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. 8 71
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KDM6B NM_001080424.2(KDM6B): c.1081_1082AG[2] (p.Glu362fs) short repeat Uncertain significance 17:7750598-7750601 17:7847276-7847277
2 KDM6B NM_001080424.2(KDM6B): c.3330_3331AG[2] (p.Ser1112fs) short repeat Uncertain significance 17:7752940-7752941 17:7849618-7849619
3 KDM6B NM_001080424.2(KDM6B): c.3730G> T (p.Glu1244Ter) single nucleotide variant Uncertain significance 17:7754395-7754395 17:7851077-7851077
4 KDM6B NM_001080424.2(KDM6B): c.3992A> G (p.Asn1331Ser) single nucleotide variant Uncertain significance 17:7754843-7754843 17:7851525-7851525
5 KDM6B NM_001080424.2(KDM6B): c.4136A> C (p.Tyr1379Ser) single nucleotide variant Uncertain significance 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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