Opitz G/BBB syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Hypospadias-hypertelorism syndrome
Opitz syndrome
Hypospadias-dysphagia syndrome
Hypertelorism-oesophageal abnormality-hypospadias syndrome
Opitz-Frias syndrome
Number of Symptoms 71
OrphanetNr: 2745
OMIM Id: 145410
300000
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic respiratory or mediastinal malformation
 -Rare developmental defect during embryogenesis
 -Rare surgical thoracic disease
Syndromic urogenital tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare urogenital disease
Telecanthus
 -Rare eye disease
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000077) Abnormality of the kidney 73 / 7739
2
 (HPO:0000069) Abnormality of the ureter 47 / 7739
3
 (HPO:0000048) Bifid scrotum 36 / 7739
4
 (HPO:0000047) Hypospadias Very frequent [Orphanet] 250 / 7739
5
 (HPO:0000028) Cryptorchidism 347 / 7739
6
 (HPO:0000175) Cleft palate 349 / 7739
7
 (HPO:0000431) Wide nasal bridge 290 / 7739
8
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
9
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
10
 (HPO:0005487) Prominent metopic ridge Occasional [Orphanet] 28 / 7739
11
 (HPO:0005280) Depressed nasal bridge 381 / 7739
12
 (HPO:0000193) Bifid uvula 66 / 7739
13
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
14
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
15
 (HPO:0000267) Cranial asymmetry 6 / 7739
16
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
17
 (HPO:0011220) Prominent forehead 137 / 7739
18
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
19
 (HPO:0000600) Abnormality of the pharynx Very frequent [Orphanet] 22 / 7739
20
 (HPO:0000319) Smooth philtrum 72 / 7739
21
 (HPO:0001363) Craniosynostosis rare [HPO:skoehler] 132 / 7739
22
 (HPO:0000200) Short lingual frenulum 4 / 7739
23
 (HPO:0000218) High palate 356 / 7739
24
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
25
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
26
 (HPO:0000239) Large fontanelles Occasional [Orphanet] 135 / 7739
27
 (HPO:0000349) Widow's peak 26 / 7739
28
 (HPO:0011069) Increased number of teeth Occasional [Orphanet] 39 / 7739
29
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
30
 (HPO:0000204) Cleft upper lip 193 / 7739
31
 (HPO:0000347) Micrognathia 426 / 7739
32
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
33
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
34
 (HPO:0000486) Strabismus 576 / 7739
35
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
36
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
37
 (HPO:0000405) Conductive hearing impairment 164 / 7739
38
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
39
 (HPO:0001249) Intellectual disability 1089 / 7739
40
 (HPO:0001263) Global developmental delay 853 / 7739
41
 (HPO:0002015) Dysphagia 301 / 7739
42
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 136 / 7739
43
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
44
 (HPO:0011467) Absent gallbladder 6 / 7739
45
 (HPO:0002025) Anal stenosis 23 / 7739
46
 (HPO:0002036) Hiatus hernia 24 / 7739
47
 (HPO:0000023) Inguinal hernia 181 / 7739
48
 (HPO:0002575) Tracheoesophageal fistula 54 / 7739
49
 (HPO:0001540) Diastasis recti 23 / 7739
50
 (HPO:0001537) Umbilical hernia 206 / 7739
51
 (HPO:0002023) Anal atresia 135 / 7739
52
 (HPO:0001629) Ventricular septal defect 316 / 7739
53
 (HPO:0001631) Atria septal defect 274 / 7739
54
 (HPO:0002092) Pulmonary hypertension 109 / 7739
55
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
56
 (HPO:0001680) Coarctation of aorta 57 / 7739
57
 (HPO:0002835) Aspiration 11 / 7739
58
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
59
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
60
 (HPO:0008751) Laryngeal cleft 5 / 7739
61
 (HPO:0001612) Weak cry 17 / 7739
62
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
63
 (HPO:0001252) Muscular hypotonia 990 / 7739
64
 (HPO:0002119) Ventriculomegaly 253 / 7739
65
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
66
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
67
 (HPO:0002120) Cerebral cortical atrophy 187 / 7739
68
 (HPO:0006817) Aplasia/Hypoplasia of the cerebellar vermis 15 / 7739
69
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
70
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
71
 (HPO:0002389) Cavum septum pellucidum 13 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: