BARATELA-SCOTT SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 58
OrphanetNr:
OMIM Id: 300881
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000678) Dental crowding rare [HPO:skoehler] 65 / 7739
2
 (HPO:0005280) Depressed nasal bridge 381 / 7739
3
 (HPO:0000677) Oligodontia 41 / 7739
4
 (HPO:0000272) Malar flattening 277 / 7739
5
 (HPO:0000668) Hypodontia rare [HPO:skoehler] 81 / 7739
6
 (HPO:0000193) Bifid uvula 66 / 7739
7
 (HPO:0002162) Low posterior hairline rare [HPO:skoehler] 88 / 7739
8
 (HPO:0000252) Microcephaly 832 / 7739
9
 (HPO:0000664) Synophrys 112 / 7739
10
 (HPO:0000175) Cleft palate 349 / 7739
11
 (HPO:0000286) Epicanthus 371 / 7739
12
 (HPO:0000483) Astigmatism rare [HPO:skoehler] 67 / 7739
13
 (HPO:0000389) Chronic otitis media rare [HPO:skoehler] 64 / 7739
14
 (HPO:0010535) Sleep apnea rare [HPO:skoehler] 24 / 7739
15
 (HPO:0000750) Delayed speech and language development 197 / 7739
16
 (HPO:0001328) Specific learning disability 114 / 7739
17
 (HPO:0001263) Global developmental delay 853 / 7739
18
 (HPO:0010536) Central sleep apnea 4 / 7739
19
 (HPO:0100864) Short femoral neck 36 / 7739
20
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
21
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
22
 (HPO:0001380) Ligamentous laxity 8 / 7739
23
 (HPO:0000887) Cupped ribs 9 / 7739
24
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
25
 (HPO:0005257) Thoracic hypoplasia 79 / 7739
26
 (HPO:0000768) Pectus carinatum 136 / 7739
27
 (HPO:0003180) Flat acetabular roof 25 / 7739
28
 (HPO:0003048) Radial head subluxation rare [HPO:skoehler] 6 / 7739
29
 (HPO:0000926) Platyspondyly 150 / 7739
30
 (HPO:0002970) Genu varum 60 / 7739
31
 (HPO:0008905) Rhizomelia 85 / 7739
32
 (HPO:0000023) Inguinal hernia rare [HPO:skoehler] 181 / 7739
33
 (HPO:0003502) Mild short stature 19 / 7739
34
 (HPO:0003561) Birth length less than 3rd percentile 10 / 7739
35
 (HPO:0001956) Truncal obesity rare [HPO:skoehler] 39 / 7739
36
 (HPO:0001620) High pitched voice rare [HPO:skoehler] 32 / 7739
37
 (OMIM) Metaphyseal changes, mild 1 / 7739
38
 (MedDRA:10072883) Brachydactyly 153 / 7739
39
 (OMIM) Class III malocclusion (rare) 3 / 7739
40
 (OMIM) Decreased range of movement of proximal interphalangeal joints 1 / 7739
41
 (OMIM) Decreased range of movement of elbows 1 / 7739
42
 (OMIM) Brachymetacarpalia 3 / 7739
43
 (OMIM) Cauliflower ear deformity (rare) 1 / 7739
44
 (OMIM) Patellae dislocation/lateral displacement 1 / 7739
45
 (OMIM) Conductive hearing loss, mild bilateral (rare) 1 / 7739
46
 (OMIM) Flexible flat feet (rare) 1 / 7739
47
 (OMIM) Short supple neck 1 / 7739
48
 (OMIM) Bilateral transverse palmar creases 4 / 7739
49
 (HPO:0011800) Midface retrusion 221 / 7739
50
 (OMIM) Single finger flexion crease on 2nd, 4th and 5th fingers (rare) 1 / 7739
51
 (OMIM) Short stature, mildly disproportionate 1 / 7739
52
 (OMIM) Esotropia with hypermetropia and strabismus (rare) 1 / 7739
53
 (OMIM) Decreased range of movement of knees 1 / 7739
54
 (OMIM) Supernumerary conical tooth (rare) 1 / 7739
55
 (OMIM) Warm and engaging personality 1 / 7739
56
 (OMIM) Stub thumb 2 / 7739
57
 (OMIM) Vertebral endplate indentations 1 / 7739
58
 (HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Baratela et al. (2012) described 7 male patients from 6 families of different ethnic backgrounds with a syndrome of skeletal dysplasia, characteristic facial features, and developmental delay. Skeletal findings included patellar dislocation, short tubular bones, mild metaphyseal changes, ...
Molecular genetics OMIM - Exclusion Studies

Because of phenotypic overlap between this syndrome and Desbuquois dysplasia, which is caused by mutation in the CANT1 gene (613165), Baratela et al. (2012) sequenced the CANT1 gene in all 7 of their ...