MCID: ILL003
MIFTS: 21

Illum Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Illum Syndrome

MalaCards integrated aliases for Illum Syndrome:

Name: Illum Syndrome 56 74 52 58
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome 52 58
Arthrogryposis Multiplex Congenita Whistling Face 52 71
Lethal Autosomal Recessive Arthrogryposis Multiplex Congenita with Whistling Face and Calcifications of the Nervous System 52
Arthrogryposis, Whistling Face, and Developmental Retardation 56

Characteristics:

Orphanet epidemiological data:

58
arthrogryposis multiplex congenita-whistling face syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
illum syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Illum Syndrome

MalaCards based summary : Illum Syndrome, also known as arthrogryposis multiplex congenita-whistling face syndrome, is related to alkuraya-kucinskas syndrome and distal arthrogryposis. Related phenotypes are seizures and muscular hypotonia

Wikipedia : 74 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...

More information from OMIM: 208155

Related Diseases for Illum Syndrome

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

# Related Disease Score Top Affiliating Genes
1 alkuraya-kucinskas syndrome 10.5
2 distal arthrogryposis 10.5
3 congenital contractures 10.5
4 congenital amyoplasia 10.5

Symptoms & Phenotypes for Illum Syndrome

Human phenotypes related to Illum Syndrome:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
6 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
7 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
8 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
9 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
10 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
11 blepharophimosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000581
12 adducted thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0001181
13 abnormality of the shoulder 58 31 hallmark (90%) Very frequent (99-80%) HP:0003043
14 whistling appearance 58 31 hallmark (90%) Very frequent (99-80%) HP:0000346
15 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
16 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
17 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
18 pierre-robin sequence 58 31 frequent (33%) Frequent (79-30%) HP:0000201
19 hearing abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000364
20 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
21 abnormal palate morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000174
22 abnormality of the nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000366
23 dimple chin 31 occasional (7.5%) HP:0010751
24 abnormal fingernail morphology 31 occasional (7.5%) HP:0001231
25 abnormality of the nervous system 31 HP:0000707
26 arthrogryposis multiplex congenita 31 HP:0002804
27 abnormality of the fingernails 58 Occasional (29-5%)
28 apnea 31 HP:0002104
29 chin dimple 58 Occasional (29-5%)
30 excessive salivation 31 HP:0003781
31 bradycardia 31 HP:0001662
32 temperature instability 31 HP:0005968
33 calcinosis 31 HP:0003761

Symptoms via clinical synopsis from OMIM:

56
Neuro:
apnea
temperature instability
cns calcinosis

Cardiovascular:
bradycardia

Joints:
arthrogryposis, multiple congenital

Mouth:
excessive salivation

Muscle:
calcinosis

Facies:
'whistling'
pierre robin sequence

Clinical features from OMIM:

208155

Drugs & Therapeutics for Illum Syndrome

Search Clinical Trials , NIH Clinical Center for Illum Syndrome

Genetic Tests for Illum Syndrome

Anatomical Context for Illum Syndrome

Publications for Illum Syndrome

Articles related to Illum Syndrome:

# Title Authors PMID Year
1
Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system. 61 56
3205375 1988
2
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. 56
25683120 2015
3
Distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: another case. 56
1488995 1992
4
Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. 56
2063898 1991

Variations for Illum Syndrome

Expression for Illum Syndrome

Search GEO for disease gene expression data for Illum Syndrome.

Pathways for Illum Syndrome

GO Terms for Illum Syndrome

Sources for Illum 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
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