Bannayan-Riley-Ruvalcaba syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA
MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
RUVALCABA-MYHRE-SMITH SYNDROME
BANNAYAN-ZONANA SYNDROME
RILEY-SMITH SYNDROME
BZS
RMSS
BRRS
Myhre-Riley-Smith syndrome
Syndrome de Myhre-Rikey-Smith
Number of Symptoms 100
OrphanetNr: 109
OMIM Id: 153480
ICD-10: Q87.8
UMLs: C0265326
MeSH:
MedDRA:
Snomed: 21984008
234138005
46011003

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic intestinal polyposis
 -Rare genetic disease
Intestinal polyposis syndrome
 -Rare gastroenterologic disease
 -Rare oncologic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Overgrowth syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
PTEN hamartoma tumor syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare oncologic disease
 -Rare skin disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002027) Abdominal pain Occasional [Orphanet] 184 / 7739
2
 (HPO:0002239) Gastrointestinal hemorrhage Frequent [Orphanet] 97 / 7739
3
 (HPO:0002573) Hematochezia 18 / 7739
4
 (HPO:0002170) Intracranial hemorrhage Occasional [Orphanet] 40 / 7739
5
 (HPO:0003010) Prolonged bleeding time Occasional [Orphanet] 88 / 7739
6
 (HPO:0007873) Abnormally prominent line of Schwalbe 4 / 7739
7
 (HPO:0000538) Pseudopapilledema 4 / 7739
8
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
9
 (HPO:0000646) Amblyopia 42 / 7739
10
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
11
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
12
 (HPO:0000098) Tall stature Occasional [Orphanet] 74 / 7739
13
 (HPO:0003517) Birth length greater than 97th percentile 4 / 7739
14
 (HPO:0004326) Cachexia Occasional [Orphanet] 71 / 7739
15
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
16
 (HPO:0001943) Hypoglycemia Occasional [Orphanet] 131 / 7739
17
 (HPO:0001677) Coronary artery disease Occasional [Orphanet] 58 / 7739
18
 (HPO:0001004) Lymphedema Occasional [Orphanet] 62 / 7739
19
 (HPO:0000872) Hashimoto thyroiditis 5 / 7739
20
 (HPO:0012032) Lipoma 10 / 7739
21
 (HPO:0001012) Multiple lipomas Very frequent [Orphanet] 43 / 7739
22
 (HPO:0003198) Myopathy Occasional [Orphanet] 151 / 7739
23
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
24
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
25
 (HPO:0010547) Muscle flaccidity 466 / 7739
26
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
27
 (HPO:0100006) Neoplasm of the central nervous system Occasional [Orphanet] 34 / 7739
28
 (HPO:0002858) Meningioma Occasional [Orphanet] 22 / 7739
29
 (HPO:0011442) Abnormality of central motor function Occasional [Orphanet] 76 / 7739
30
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
31
 (HPO:0001249) Intellectual disability 1089 / 7739
32
 (HPO:0002194) Delayed gross motor development 37 / 7739
33
 (HPO:0000750) Delayed speech and language development 197 / 7739
34
 (HPO:0002167) Neurological speech impairment 308 / 7739
35
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
36
 (HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
37
 (HPO:0004099) Macrodactyly 5 / 7739
38
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
39
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
40
 (HPO:0000268) Dolichocephaly Occasional [Orphanet] 144 / 7739
41
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
42
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
43
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
44
 (HPO:0002558) Supernumerary nipple 40 / 7739
45
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
46
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
47
 (HPO:0002652) Skeletal dysplasia Occasional [Orphanet] 113 / 7739
48
 (HPO:0200008) Intestinal polyposis Very frequent [Orphanet] 23 / 7739
49
 (HPO:0005214) Intestinal obstruction Occasional [Orphanet] 35 / 7739
50
 (HPO:0004390) Hamartomatous polyposis 9 / 7739
51
 (HPO:0002576) Intussusception 10 / 7739
52
 (HPO:0100641) Neoplasm of the adrenal cortex Occasional [Orphanet] 3 / 7739
53
 (HPO:0000036) Abnormality of the penis Very frequent [Orphanet] 8 / 7739
54
 (HPO:0000040) Long penis 17 / 7739
55
 (HPO:0010784) Uterine neoplasm Occasional [Orphanet] 13 / 7739
56
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
57
 (HPO:0000218) High palate 356 / 7739
58
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
59
 (HPO:0100649) Neoplasm of the oral cavity Very frequent [Orphanet] 20 / 7739
60
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
61
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
62
 (HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
63
 (HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
64
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
65
 (HPO:0000956) Acanthosis nigricans Occasional [Orphanet] 54 / 7739
66
 (HPO:0000957) Cafe-au-lait spot Occasional [Orphanet] 84 / 7739
67
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
68
 (HPO:0000965) Cutis marmorata Occasional [Orphanet] 46 / 7739
69
 (MedDRA:10025421) Macule Very frequent [Orphanet] 55 / 7739
70
 (HPO:0001028) Hemangioma 23 / 7739
71
 (HPO:0001048) Cavernous hemangioma Very frequent [Orphanet] 28 / 7739
72
 (HPO:0100761) Visceral angiomatosis Very frequent [Orphanet] 21 / 7739
73
 (HPO:0001014) Angiokeratoma 5 / 7739
74
 (HPO:0100585) Telangiectasia of the skin Occasional [Orphanet] 66 / 7739
75
 (HPO:0100031) Neoplasm of the thyroid gland Occasional [Orphanet] 15 / 7739
76
 (HPO:0100646) Thyroiditis Occasional [Orphanet] 11 / 7739
77
 (HPO:0009726) Renal neoplasm Occasional [Orphanet] 20 / 7739
78
 (HPO:0001724) Aortic dilatation Occasional [Orphanet] 24 / 7739
79
 (HPO:0100026) Arteriovenous malformation Very frequent [Orphanet] 38 / 7739
80
 (HPO:0008897) Postnatal growth retardation 113 / 7739
81
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
82
 (HPO:0100013) Neoplasm of the breast Very frequent [Orphanet] 18 / 7739
83
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
84
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
85
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
86
 (HPO:0003621) Juvenile onset 105 / 7739
87
 (HPO:0400004) Long ear Occasional [Orphanet] 94 / 7739
88
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
89
 (HPO:0007074) Thick corpus callosum 5 / 7739
90
 (OMIM) Birthweight greater than 4 kg 1 / 7739
91
 (OMIM) Colonic hamartomatous polyps 1 / 7739
92
 (OMIM) Enlarged testis 1 / 7739
93
 (OMIM) Ileal hamartomatous polyps 1 / 7739
94
 (OMIM) Lipid storage myopathy 4 / 7739
95
 (OMIM) Mental retardation, mild to severe 14 / 7739
96
 (OMIM) Normal adult height 2 / 7739
97
 (OMIM) Prominent corneal nerves 2 / 7739
98
 (OMIM) Tan macules on glans penis and penile shaft 1 / 7739
99
 (OMIM) Thyroid follicular cell tumor 1 / 7739
100
 (OMIM) Tongue polyps 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Blumenthal and Dennis (2008) provided a detailed review of PTEN-related tumor syndromes.
Clinical Description OMIM Riley and Smith (1960) described a mother and 2 of 7 children with macrocephaly, pseudopapilledema, and multiple hemangiomata. Two other sibs had macrocephaly and pseudopapilledema. Intellect and vision were unimpaired.

Bannayan (1971) first described the triad ...
Genotype-Phenotype Correlations OMIM Marsh et al. (1999) screened for PTEN mutations in constitutive DNA samples from 43 Bannayan-Riley-Ruvalcaba syndrome individuals comprising 16 sporadic and 27 familial cases, 11 of which were families with both Cowden disease and BRRS. Mutations were identified ...
Molecular genetics OMIM Marsh et al. (1997) identified germline mutations in the PTEN gene in patients with Bannayan-Zonana syndrome, demonstrating that Cowden disease (158350) and BZS are allelic disorders. One of the mutations that Marsh et al. (1997) identified, R233X (601728.0002), ...