MCID: NRF010
MIFTS: 23

Neurofaciodigitorenal Syndrome

Categories: Fetal diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neurofaciodigitorenal Syndrome

MalaCards integrated aliases for Neurofaciodigitorenal Syndrome:

Name: Neurofaciodigitorenal Syndrome 56 52 58 71
Nfdr Syndrome 56 52
Freire-Maia Pinheiro Opitz Syndrome 52
Freire Maia-Pinheiro-Opitz Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
neurofaciodigitorenal syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 256690
MESH via Orphanet 44 C537388
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C0796088
Orphanet 58 ORPHA2673
MedGen 41 C0796088
UMLS 71 C0796088

Summaries for Neurofaciodigitorenal Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2673 Definition Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia , intellectual disability , abnormal EEG ), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis , ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. Visit the Orphanet disease page for more resources.

MalaCards based summary : Neurofaciodigitorenal Syndrome, also known as nfdr syndrome, is related to renal hypodysplasia/aplasia 1 and macrocephaly/megalencephaly syndrome, autosomal recessive. Affiliated tissues include heart, bone and kidney, and related phenotypes are low-set ears and intellectual disability

More information from OMIM: 256690

Related Diseases for Neurofaciodigitorenal Syndrome

Diseases related to Neurofaciodigitorenal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 renal hypodysplasia/aplasia 1 10.1
2 macrocephaly/megalencephaly syndrome, autosomal recessive 10.1
3 opitz-kaveggia syndrome 10.1
4 ptosis 10.1
5 hypotonia 10.1
6 megalencephaly 10.1
7 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.1

Graphical network of the top 20 diseases related to Neurofaciodigitorenal Syndrome:



Diseases related to Neurofaciodigitorenal Syndrome

Symptoms & Phenotypes for Neurofaciodigitorenal Syndrome

Human phenotypes related to Neurofaciodigitorenal Syndrome:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
6 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
7 prominent forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0011220
8 external ear malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008572
9 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
10 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
11 triphalangeal thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0001199
12 abnormality of the tragus 58 31 hallmark (90%) Very frequent (99-80%) HP:0009912
13 atresia of the external auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0000413
14 abnormality of the antitragus 58 31 hallmark (90%) Very frequent (99-80%) HP:0009896
15 hypoplasia of the premaxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0010650
16 abnormal oral mucosa morphology 31 hallmark (90%) HP:0011830
17 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
18 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
19 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
20 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
21 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
22 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
23 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
24 corneal dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001131
25 abnormality of the philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000288
26 abnormality of the elbow 58 31 frequent (33%) Frequent (79-30%) HP:0009811
27 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
28 unilateral renal agenesis 58 31 frequent (33%) Frequent (79-30%) HP:0000122
29 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
30 abnormal distal phalanx morphology of finger 31 frequent (33%) HP:0009832
31 frontal bossing 31 HP:0002007
32 eeg abnormality 31 HP:0002353
33 abnormality of metabolism/homeostasis 31 HP:0001939
34 malformation of the heart and great vessels 58 Frequent (79-30%)
35 abnormality of the distal phalanx of finger 58 Frequent (79-30%)
36 abnormality of oral mucosa 58 Very frequent (99-80%)
37 midline defect of the nose 31 HP:0004122
38 bifid nose 31 HP:0011803

Symptoms via clinical synopsis from OMIM:

56
Growth:
short stature

G U:
unilateral renal agenesis

Lab:
highly abnormal eeg

Neuro:
prominent forehead
bifid nose
mental retardation
no seizures
heent vertical groove in tip of nose
more
Limbs:
triphalangeal thumbs

Clinical features from OMIM:

256690

Drugs & Therapeutics for Neurofaciodigitorenal Syndrome

Search Clinical Trials , NIH Clinical Center for Neurofaciodigitorenal Syndrome

Genetic Tests for Neurofaciodigitorenal Syndrome

Anatomical Context for Neurofaciodigitorenal Syndrome

MalaCards organs/tissues related to Neurofaciodigitorenal Syndrome:

40
Heart, Bone, Kidney

Publications for Neurofaciodigitorenal Syndrome

Articles related to Neurofaciodigitorenal Syndrome:

# Title Authors PMID Year
1
A new familial syndrome with facial abnormalities, abnormal EEG, and mental retardation. 61 56
11310993 2001
2
A female patient with neurological, facial, digital and renal abnormalities: another case of the neurofaciodigitorenal (NFDR) syndrome? 61 56
9354842 1997
3
The neurofaciodigitorenal (NFDR) syndrome. 61 56
7081297 1982
4
Dermatoglyphics in kidney diseases: a review. 61
27066327 2016

Variations for Neurofaciodigitorenal Syndrome

Expression for Neurofaciodigitorenal Syndrome

Search GEO for disease gene expression data for Neurofaciodigitorenal Syndrome.

Pathways for Neurofaciodigitorenal Syndrome

GO Terms for Neurofaciodigitorenal Syndrome

Sources for Neurofaciodigitorenal Syndrome

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
Content
Loading form....