Braddock syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency
Number of Symptoms 45
OrphanetNr: 52047
OMIM Id: 608406
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 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
Syndrome with pulmonary hypertension as a major feature
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
 (HPO:0000122) Unilateral renal agenesis 24 / 7739
2
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
3
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
4
 (HPO:0000316) Hypertelorism 644 / 7739
5
 (HPO:0005988) Congenital muscular torticollis Frequent [Orphanet] 11 / 7739
6
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
7
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
8
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
9
 (HPO:0000601) Hypotelorism Frequent [Orphanet] 83 / 7739
10
 (HPO:0009553) Abnormality of the hairline Frequent [Orphanet] 30 / 7739
11
 (HPO:0000592) Blue sclerae Very frequent [Orphanet] 85 / 7739
12
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
13
 (HPO:0008544) Abnormally folded helix Frequent [Orphanet] 24 / 7739
14
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
15
 (HPO:0004404) Abnormality of the nipple Frequent [Orphanet] 54 / 7739
16
 (HPO:0001177) Preaxial hand polydactyly Frequent [Orphanet] 59 / 7739
17
 (HPO:0000921) Missing ribs Very frequent [Orphanet] 62 / 7739
18
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
19
 (HPO:0000913) Posterior rib fusion 2 / 7739
20
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
21
 (HPO:0002937) Hemivertebrae 41 / 7739
22
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
23
 (HPO:0000772) Abnormality of the ribs 146 / 7739
24
 (HPO:0100258) Preaxial polydactyly 39 / 7739
25
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
26
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
27
 (HPO:0001510) Growth delay 295 / 7739
28
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
29
 (HPO:0001595) Abnormality of the hair 89 / 7739
30
 (HPO:0001631) Atria septal defect 274 / 7739
31
 (HPO:0001629) Ventricular septal defect 316 / 7739
32
 (HPO:0002092) Pulmonary hypertension Very frequent [Orphanet] 109 / 7739
33
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
34
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
35
 (HPO:0002206) Pulmonary fibrosis Very frequent [Orphanet] 51 / 7739
36
 (HPO:0001602) Laryngeal stenosis Very frequent [Orphanet] 21 / 7739
37
 (HPO:0005950) Laryngeal web 5 / 7739
38
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
39
 (HPO:0001600) Abnormality of the larynx 15 / 7739
40
 (OMIM) Elbow dimples 1 / 7739
41
 (OMIM) Posterior parietal hair whorls 1 / 7739
42
 (OMIM) Absence of several ribs 1 / 7739
43
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
44
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
45
 (MedDRA:10023871) Laryngeal web 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: