Phocomelia - ectrodactyly - deafness - sinus arrhythmia

General Information (adopted from Orphanet):

Synonyms, Signs: FACIOAURICULORADIAL DYSPLASIA
Stoll-Lévy-Francfort syndrome
Number of Symptoms 49
OrphanetNr: 2878
OMIM Id: 171480
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0011800) Midface retrusion 221 / 7739
2
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
3
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
4
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
5
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
6
 (HPO:0000272) Malar flattening 277 / 7739
7
 (HPO:0002002) Deep philtrum Very frequent [Orphanet] 42 / 7739
8
 (HPO:0009933) Narrow naris Very frequent [Orphanet] 16 / 7739
9
 (HPO:0009896) Abnormality of the antitragus Very frequent [Orphanet] 10 / 7739
10
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
11
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 67 / 7739
12
 (HPO:0008551) Microtia 98 / 7739
13
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
14
 (HPO:0000372) Abnormality of the auditory canal Very frequent [Orphanet] 49 / 7739
15
 (HPO:0000402) Stenosis of the external auditory canal 22 / 7739
16
 (HPO:0004461) Congenital earlobe sinuses 2 / 7739
17
 (HPO:0003974) Absent radius 26 / 7739
18
 (HPO:0000895) Lateral clavicle hook 11 / 7739
19
 (HPO:0003063) Abnormality of the humerus Very frequent [Orphanet] 36 / 7739
20
 (HPO:0005792) Short humerus 34 / 7739
21
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
22
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
23
 (HPO:0006420) Asymmetric radial dysplasia 1 / 7739
24
 (HPO:0002970) Genu varum 60 / 7739
25
 (HPO:0004557) Anterior vertebral fusion 1 / 7739
26
 (HPO:0001171) Split hand 72 / 7739
27
 (HPO:0005011) Mesomelic arm shortening 13 / 7739
28
 (HPO:0003834) Shoulder dislocation 28 / 7739
29
 (HPO:0010038) Short 2nd metacarpal 2 / 7739
30
 (HPO:0003019) Abnormality of the wrist Very frequent [Orphanet] 52 / 7739
31
 (HPO:0000890) Long clavicles 13 / 7739
32
 (HPO:0003042) Elbow dislocation 89 / 7739
33
 (HPO:0009486) Radial deviation of the hand Frequent [Orphanet] 13 / 7739
34
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
35
 (HPO:0003031) Ulnar bowing 16 / 7739
36
 (HPO:0003038) Fibular hypoplasia 30 / 7739
37
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
38
 (HPO:0002974) Radioulnar synostosis 52 / 7739
39
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
40
 (HPO:0004322) Short stature 1232 / 7739
41
 (HPO:0011025) Abnormality of cardiovascular system physiology Very frequent [Orphanet] 41 / 7739
42
 (HPO:0011675) Arrhythmia 226 / 7739
43
 (MedDRA:10040739) Sinus arrhythmia 1 / 7739
44
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
45
 (OMIM) Absent second finger 1 / 7739
46
 (OMIM) Club hand 3 / 7739
47
 (HPO:0040065) Abnormal morphology of bones of the upper limbs Very frequent [Orphanet] 25 / 7739
48
 (OMIM) Absent stapedial reflex 1 / 7739
49
 (OMIM) Normal intelligence 81 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: