RAPADILINO syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 43
OrphanetNr: 3021
OMIM Id: 266280
ICD-10: Q87.1
UMLs: C1849453
MeSH: C535288
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000417) Slender nose 5 / 7739
2
 (HPO:0000218) High palate 356 / 7739
3
 (HPO:0000276) Long face 109 / 7739
4
 (HPO:0000175) Cleft palate 349 / 7739
5
 (HPO:0000446) Narrow nasal bridge Very frequent [Orphanet] 29 / 7739
6
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
7
 (HPO:0000581) Blepharophimosis 197 / 7739
8
 (HPO:0000331) Short chin 33 / 7739
9
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
10
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
11
 (HPO:0002827) Hip dislocation 94 / 7739
12
 (HPO:0003834) Shoulder dislocation 28 / 7739
13
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
14
 (HPO:0003045) Abnormality of the patella Very frequent [Orphanet] 33 / 7739
15
 (HPO:0012095) Multiple joint dislocation 24 / 7739
16
 (HPO:0002999) Patellar dislocation 46 / 7739
17
 (HPO:0009777) Absent thumb 31 / 7739
18
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
19
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
20
 (HPO:0003042) Elbow dislocation 89 / 7739
21
 (HPO:0001373) Joint dislocation 59 / 7739
22
 (HPO:0005198) Stiff interphalangeal joints 2 / 7739
23
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
24
 (HPO:0003994) Dislocated wrist 24 / 7739
25
 (HPO:0006498) Aplasia/Hypoplasia of the patella 10 / 7739
26
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
27
 (HPO:0003179) Protrusio acetabuli 37 / 7739
28
 (HPO:0006501) Aplasia/Hypoplasia of the radius 2 / 7739
29
 (HPO:0002014) Diarrhea 225 / 7739
30
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
31
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
32
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
33
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
34
 (HPO:0000957) Cafe-au-lait spot Frequent [Orphanet] 84 / 7739
35
 (HPO:0001070) Mottled pigmentation 8 / 7739
36
 (HPO:0002665) Lymphoma Occasional [Orphanet] 60 / 7739
37
 (HPO:0100242) Sarcoma Occasional [Orphanet] 27 / 7739
38
 (OMIM) Infantile diarrhea 1 / 7739
39
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
40
 (OMIM) Unusual ears 1 / 7739
41
 (OMIM) Long slender nose 1 / 7739
42
 (OMIM) Normal intelligence 81 / 7739
43
 (OMIM) Mottled or stippled pigmentation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a brother and sister and in 3 sporadic patients, Kaariainen et al. (1989) described a syndrome with radial and patellar aplasia or hypoplasia as main features. Additional findings were absence of thumbs, dislocation of joints, unusual facies ...
Molecular genetics OMIM Siitonen et al. (2003) noted clinical similarities between RAPADILINO syndrome and Rothmund-Thomson syndrome (268400), which can be caused by mutation in the RECQL4 gene. In a screening for mutations in the RECQL4 gene in 10 Finnish families with ...