Autosomal dominant Opitz G/BBB syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: OPITZ OCULOGENITOLARYNGEAL SYNDROME, TYPE II
OPITZ-G SYNDROME, TYPE II
OPITZ BBBG SYNDROME
BBB SYNDROME
G SYNDROME
TELECANTHUS WITH ASSOCIATED ABNORMALITIES
OPITZ GBBB SYNDROME, TYPE II
TELECANTHUS-HYPOSPADIAS SYNDROME
HYPOSPADIAS-DYSPHAGIA SYNDROME
HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS
GBBB SYNDROME
OPITZ-FRIAS SYNDROME
HYPERTELORISM-HYPOSPADIAS SYNDROME
OGS2
ADOS
CHROMOSOME 22q11.2 DELETION SYNDROME, OPITZ PHENOTYPE
Autosomal dominant Opitz BBB/G syndrome
Autosomal dominant Opitz syndrome
Number of Symptoms 49
OrphanetNr: 306588
OMIM Id: 145410
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Opitz G/BBB syndrome
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
 -Rare surgical thoracic disease
 -Rare urogenital 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:0000047) Hypospadias 250 / 7739
4
 (HPO:0000028) Cryptorchidism 347 / 7739
5
 (HPO:0000048) Bifid scrotum 36 / 7739
6
 (HPO:0011220) Prominent forehead 137 / 7739
7
 (HPO:0000175) Cleft palate 349 / 7739
8
 (HPO:0000316) Hypertelorism 644 / 7739
9
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
10
 (HPO:0000200) Short lingual frenulum 4 / 7739
11
 (HPO:0000218) High palate 356 / 7739
12
 (HPO:0000286) Epicanthus 371 / 7739
13
 (HPO:0000319) Smooth philtrum 72 / 7739
14
 (HPO:0000347) Micrognathia 426 / 7739
15
 (HPO:0000193) Bifid uvula 66 / 7739
16
 (HPO:0000204) Cleft upper lip 193 / 7739
17
 (HPO:0000431) Wide nasal bridge 290 / 7739
18
 (HPO:0000267) Cranial asymmetry 6 / 7739
19
 (HPO:0000506) Telecanthus 156 / 7739
20
 (HPO:0000349) Widow's peak 26 / 7739
21
 (HPO:0000486) Strabismus 576 / 7739
22
 (HPO:0000405) Conductive hearing impairment 164 / 7739
23
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
24
 (HPO:0002015) Dysphagia 301 / 7739
25
 (HPO:0001249) Intellectual disability 1089 / 7739
26
 (HPO:0001263) Global developmental delay 853 / 7739
27
 (HPO:0002036) Hiatus hernia 24 / 7739
28
 (HPO:0001540) Diastasis recti 23 / 7739
29
 (HPO:0000023) Inguinal hernia 181 / 7739
30
 (HPO:0002023) Anal atresia 135 / 7739
31
 (HPO:0011467) Absent gallbladder 6 / 7739
32
 (HPO:0001537) Umbilical hernia 206 / 7739
33
 (HPO:0002575) Tracheoesophageal fistula 54 / 7739
34
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
35
 (HPO:0001629) Ventricular septal defect 316 / 7739
36
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
37
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
38
 (HPO:0002835) Aspiration 11 / 7739
39
 (HPO:0001324) Muscle weakness 859 / 7739
40
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
41
 (HPO:0010547) Muscle flaccidity 466 / 7739
42
 (HPO:0001252) Muscular hypotonia 990 / 7739
43
 (HPO:0002119) Ventriculomegaly 253 / 7739
44
 (OMIM) Weak, hoarse cry 1 / 7739
45
 (HPO:0002389) Cavum septum pellucidum 13 / 7739
46
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
47
 (HPO:0002120) Cerebral cortical atrophy 187 / 7739
48
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
49
 (OMIM) Splayed posterior labia majora 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental ...
Clinical Description OMIM Opitz et al. (1969) described 4 brothers with hypertelorism, a neuromuscular defect of the esophagus and swallowing mechanism, hoarse cry, hypospadias, cryptorchidism, bifid scrotum, and, in one, imperforate anus. Two other brothers had died of aspiration. The parents ...