NFSRA
MCID: NRF027
MIFTS: 13

Neurofacioskeletal Syndrome with or Without Renal Agenesis (NFSRA)

Categories: Bone diseases, Genetic diseases, Nephrological diseases, Neuronal diseases

Aliases & Classifications for Neurofacioskeletal Syndrome with or Without Renal Agenesis

MalaCards integrated aliases for Neurofacioskeletal Syndrome with or Without Renal Agenesis:

Name: Neurofacioskeletal Syndrome with or Without Renal Agenesis 57
Neurodevelopmental Disorder with Corpus Callosum Agenesis, Craniofacial Dysmorphism, and Skeletal Anomalies, with or Without Renal Agenesis 57
Nfsra 57

Characteristics:

OMIM®:

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


Classifications:



External Ids:

OMIM® 57 619194

Summaries for Neurofacioskeletal Syndrome with or Without Renal Agenesis

OMIM® : 57 Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) is characterized by developmental delay and/or intellectual disability; corpus callosum hypoplasia or agenesis; facial dysmorphism, including upslanting palpebral fissures, broad nasal tip, and wide mouth; and skeletal abnormalities, including short stature, scoliosis, and flexion contractures, with broad fingertips and/or toes. Renal agenesis, unilateral or bilateral, has also been observed in some patients (Schneeberger et al., 2020). (619194) (Updated 05-Mar-2021)

MalaCards based summary : Neurofacioskeletal Syndrome with or Without Renal Agenesis, is also known as neurodevelopmental disorder with corpus callosum agenesis, craniofacial dysmorphism, and skeletal anomalies, with or without renal agenesis. An important gene associated with Neurofacioskeletal Syndrome with or Without Renal Agenesis is HS2ST1 (Heparan Sulfate 2-O-Sulfotransferase 1).

Related Diseases for Neurofacioskeletal Syndrome with or Without Renal Agenesis

Symptoms & Phenotypes for Neurofacioskeletal Syndrome with or Without Renal Agenesis

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Mouth:
high palate
wide mouth
cleft palate, submucous

Growth Height:
short stature

Skeletal Limbs:
genu valgum
short arms
flexion contractures of elbows
flexion contractures of knees
bilateral small femoral epiphyses
more
Neurologic Central Nervous System:
motor delay
delayed myelination
delayed or absent speech
developmental delay, moderate to severe
speech with impaired articulation
more
Skeletal Feet:
brachydactyly
broad toes
camptodactyly of toes
supination of both feet
clubfoot, unilateral
more
Genitourinary Kidneys:
renal agenesis

Skeletal Spine:
thoracic kyphoscoliosis
lumbar scoliosis
narrow spinal canal
hemivertebra at l5
anteriorly rounded vertebral bodies

Growth Weight:
low weight

Head And Neck Eyes:
hypertelorism
visual impairment
posterior embryotoxon
anterior polar cataract
iris hypoplasia
more
Head And Neck Face:
prominent forehead
deep philtrum
coarse face
bitemporal narrowing
high frontal hairline

Head And Neck Ears:
low-set ears
posteriorly rotated ears
dysmorphic ears

Skeletal Hands:
brachydactyly
camptodactyly
short phalanges
broad thumbs
broad fingertips
more
Skeletal Pelvis:
coxa valga
flexion contractures of hips
subluxation of hip
narrow iliac bones

Head And Neck Nose:
broad nasal tip
broad nasal bridge
broad nasal root

Genitourinary Bladder:
hyporeflexic bladder
rudimentary bladder

Genitourinary Ureters:
megaureter

Clinical features from OMIM®:

619194 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurofacioskeletal Syndrome with or Without Renal Agenesis

Search Clinical Trials , NIH Clinical Center for Neurofacioskeletal Syndrome with or Without Renal Agenesis

Genetic Tests for Neurofacioskeletal Syndrome with or Without Renal Agenesis

Anatomical Context for Neurofacioskeletal Syndrome with or Without Renal Agenesis

Publications for Neurofacioskeletal Syndrome with or Without Renal Agenesis

Articles related to Neurofacioskeletal Syndrome with or Without Renal Agenesis:

# Title Authors PMID Year
1
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities. 57
33159882 2020

Variations for Neurofacioskeletal Syndrome with or Without Renal Agenesis

Expression for Neurofacioskeletal Syndrome with or Without Renal Agenesis

Search GEO for disease gene expression data for Neurofacioskeletal Syndrome with or Without Renal Agenesis.

Pathways for Neurofacioskeletal Syndrome with or Without Renal Agenesis

GO Terms for Neurofacioskeletal Syndrome with or Without Renal Agenesis

Sources for Neurofacioskeletal Syndrome with or Without Renal Agenesis

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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