MCID: NRF010
MIFTS: 20

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 58 54 60 74
Nfdr Syndrome 58 54
Freire-Maia Pinheiro Opitz Syndrome 54
Freire Maia-Pinheiro-Opitz Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
neurofaciodigitorenal syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurofaciodigitorenal Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2673Disease definitionNeurofaciodigitorenal 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, is also known as nfdr syndrome. Affiliated tissues include bone, and related phenotypes are low-set ears and intellectual disability

Description from OMIM: 256690

Related Diseases for Neurofaciodigitorenal Syndrome

Symptoms & Phenotypes for Neurofaciodigitorenal Syndrome

Human phenotypes related to Neurofaciodigitorenal Syndrome:

60 33 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
6 prominent forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0011220
7 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
8 external ear malformation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008572
9 prominent nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000426
10 abnormality of the metacarpal bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0001163
11 triphalangeal thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0001199
12 abnormality of the tragus 60 33 hallmark (90%) Very frequent (99-80%) HP:0009912
13 atresia of the external auditory canal 60 33 hallmark (90%) Very frequent (99-80%) HP:0000413
14 abnormality of the antitragus 60 33 hallmark (90%) Very frequent (99-80%) HP:0009896
15 hypoplasia of the premaxilla 60 33 hallmark (90%) Very frequent (99-80%) HP:0010650
16 abnormal oral mucosa morphology 33 hallmark (90%) HP:0011830
17 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
18 pectus excavatum 60 33 frequent (33%) Frequent (79-30%) HP:0000767
19 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
20 mandibular prognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000303
21 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
22 corneal dystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001131
23 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
24 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
25 abnormality of the elbow 60 33 frequent (33%) Frequent (79-30%) HP:0009811
26 plagiocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0001357
27 unilateral renal agenesis 60 33 frequent (33%) Frequent (79-30%) HP:0000122
28 abnormality of the philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000288
29 abnormality of cardiovascular system morphology 33 frequent (33%) HP:0030680
30 abnormal distal phalanx morphology of finger 33 frequent (33%) HP:0009832
31 frontal bossing 33 HP:0002007
32 eeg abnormality 33 HP:0002353
33 abnormality of metabolism/homeostasis 33 HP:0001939
34 malformation of the heart and great vessels 60 Frequent (79-30%)
35 abnormality of the distal phalanx of finger 60 Frequent (79-30%)
36 abnormality of oral mucosa 60 Very frequent (99-80%)
37 midline defect of the nose 33 HP:0004122
38 bifid nose 33 HP:0011803

Symptoms via clinical synopsis from OMIM:

58
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:

42
Bone

Publications for Neurofaciodigitorenal Syndrome

Articles related to Neurofaciodigitorenal Syndrome:

# Title Authors Year
1
A female patient with neurological, facial, digital and renal abnormalities: another case of the neurofaciodigitorenal (NFDR) syndrome? ( 9354842 )
1997
2
The neurofaciodigitorenal (NFDR) syndrome. ( 7081297 )
1982

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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