Arthrogryposis multiplex congenita - whistling face

General Information (adopted from Orphanet):

Synonyms, Signs: ARTHROGRYPOSIS, WHISTLING FACE, AND DEVELOPMENTAL RETARDATION
Illum syndrome
Number of Symptoms 39
OrphanetNr: 1150
OMIM Id: 208155
ICD-10: Q87.8
UMLs: C1859711
MeSH: C538401
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Arthrogryposis multiplex congenita
 -Rare developmental defect during embryogenesis
Syndrome or malformation associated with head and neck malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000201) Pierre-Robin sequence 20 / 7739
2
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
3
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
4
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
5
 (HPO:0000153) Abnormality of the mouth Very frequent [Orphanet] 60 / 7739
6
 (HPO:0000436) Abnormality of the nasal tip Occasional [Orphanet] 18 / 7739
7
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
8
 (HPO:0010751) Chin dimple Occasional [Orphanet] 16 / 7739
9
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
10
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
11
 (HPO:0003781) Excessive salivation 15 / 7739
12
 (HPO:0000346) Whistling appearance 4 / 7739
13
 (HPO:0002714) Downturned corners of mouth Occasional [Orphanet] 98 / 7739
14
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
15
 (HPO:0000598) Abnormality of the ear Occasional [Orphanet] 98 / 7739
16
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
17
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
18
 (HPO:0000707) Abnormality of the nervous system 61 / 7739
19
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
20
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
21
 (HPO:0002763) Abnormal cartilage morphology Very frequent [Orphanet] 15 / 7739
22
 (HPO:0010488) Aplasia/Hypoplasia of the palmar creases Very frequent [Orphanet] 15 / 7739
23
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
24
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
25
 (HPO:0001561) Polyhydramnios Very frequent [Orphanet] 191 / 7739
26
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
27
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
28
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
29
 (HPO:0001662) Bradycardia 41 / 7739
30
 (HPO:0005968) Temperature instability 5 / 7739
31
 (HPO:0002104) Apnea 106 / 7739
32
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
33
 (HPO:0003761) Calcinosis 12 / 7739
34
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
35
 (OMIM) 'Whistling' 1 / 7739
36
 (OMIM) CNS calcinosis 1 / 7739
37
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
38
 (OMIM) Arthrogryposis, multiple congenital 1 / 7739
39
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: