Bohring-Opitz syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: BOPS
opitz trigonocephaly-like syndrome
BOS syndrome
c-like syndrome
Oberklaid-Danks syndrome
bohring syndrome
Number of Symptoms 114
OrphanetNr: 97297
OMIM Id: 605039
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic 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:0000076) Vesicoureteral reflux 94 / 7739
2
 (HPO:0000077) Abnormality of the kidney Occasional [Orphanet] 73 / 7739
3
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
4
 (HPO:0000189) Narrow palate 45 / 7739
5
 (HPO:0000243) Trigonocephaly Very frequent [Orphanet] 40 / 7739
6
 (HPO:0000664) Synophrys Frequent [Orphanet] 112 / 7739
7
 (HPO:0000329) Facial hemangioma 5 / 7739
8
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
9
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
10
 (HPO:0005487) Prominent metopic ridge 28 / 7739
11
 (HPO:0000347) Micrognathia 426 / 7739
12
 (HPO:0000431) Wide nasal bridge 290 / 7739
13
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
14
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
15
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
16
 (HPO:0000187) Broad alveolar ridges 14 / 7739
17
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
18
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
19
 (HPO:0000276) Long face 109 / 7739
20
 (HPO:0000341) Narrow forehead Very frequent [Orphanet] 96 / 7739
21
 (HPO:0000278) Retrognathia 100 / 7739
22
 (HPO:0000175) Cleft palate 349 / 7739
23
 (HPO:0011220) Prominent forehead 137 / 7739
24
 (HPO:0000294) Low anterior hairline Very frequent [Orphanet] 52 / 7739
25
 (HPO:0001305) Dandy-Walker malformation Occasional [Orphanet] 79 / 7739
26
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
27
 (HPO:0009891) Underdeveloped supraorbital ridges Very frequent [Orphanet] 36 / 7739
28
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
29
 (HPO:0010285) Oral synechia Frequent [Orphanet] 31 / 7739
30
 (HPO:0000488) Retinopathy Frequent [Orphanet] 75 / 7739
31
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
32
 (HPO:0000593) Abnormality of the anterior chamber Frequent [Orphanet] 15 / 7739
33
 (HPO:0000587) Abnormality of the optic nerve 5 / 7739
34
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
35
 (HPO:0000369) Low-set ears 372 / 7739
36
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
37
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
38
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
39
 (HPO:0011401) Delayed peripheral myelination 1 / 7739
40
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
41
 (HPO:0001263) Global developmental delay 853 / 7739
42
 (HPO:0002187) Intellectual disability, profound 44 / 7739
43
 (HPO:0006610) Wide intermamillary distance 46 / 7739
44
 (HPO:0002558) Supernumerary nipple Frequent [Orphanet] 40 / 7739
45
 (HPO:0004404) Abnormality of the nipple Frequent [Orphanet] 54 / 7739
46
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
47
 (HPO:0009465) Ulnar deviation of finger Very frequent [Orphanet] 48 / 7739
48
 (HPO:0000960) Sacral dimple 29 / 7739
49
 (HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
50
 (HPO:0003468) Abnormality of the vertebrae Frequent [Orphanet] 77 / 7739
51
 (HPO:0005257) Thoracic hypoplasia Frequent [Orphanet] 79 / 7739
52
 (HPO:0003049) Ulnar deviation of the wrist 6 / 7739
53
 (HPO:0012385) Camptodactyly 113 / 7739
54
 (HPO:0006191) Deep palmar crease 16 / 7739
55
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
56
 (HPO:0001773) Short foot Occasional [Orphanet] 86 / 7739
57
 (HPO:0001159) Syndactyly 140 / 7739
58
 (HPO:0001371) Flexion contracture 220 / 7739
59
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
60
 (HPO:0005026) Mesomelic/rhizomelic limb shortening 2 / 7739
61
 (HPO:0003083) Dislocated radial head 35 / 7739
62
 (HPO:0001169) Broad palm 43 / 7739
63
 (HPO:0001373) Joint dislocation 59 / 7739
64
 (HPO:0001831) Short toe 52 / 7739
65
 (HPO:0001182) Tapered finger 93 / 7739
66
 (HPO:0001845) Overlapping toe 18 / 7739
67
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
68
 (HPO:0001561) Polyhydramnios Occasional [Orphanet] 191 / 7739
69
 (HPO:0002577) Abnormality of the stomach Frequent [Orphanet] 84 / 7739
70
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
71
 (HPO:0012090) Abnormality of pancreas morphology Frequent [Orphanet] 31 / 7739
72
 (HPO:0002566) Intestinal malrotation Frequent [Orphanet] 89 / 7739
73
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
74
 (HPO:0006276) Hyperechogenic pancreas 1 / 7739
75
 (HPO:0011968) Feeding difficulties 240 / 7739
76
 (HPO:0004322) Short stature 1232 / 7739
77
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
78
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
79
 (HPO:0001508) Failure to thrive 454 / 7739
80
 (HPO:0002208) Coarse hair Very frequent [Orphanet] 58 / 7739
81
 (HPO:0100874) Thick hair 7 / 7739
82
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
83
 (HPO:0001007) Hirsutism 91 / 7739
84
 (HPO:0001869) Deep plantar creases 14 / 7739
85
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
86
 (HPO:0001629) Ventricular septal defect 316 / 7739
87
 (HPO:0001631) Atria septal defect 274 / 7739
88
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
89
 (HPO:0010547) Muscle flaccidity 466 / 7739
90
 (HPO:0001324) Muscle weakness 859 / 7739
91
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
92
 (HPO:0001252) Muscular hypotonia 990 / 7739
93
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
94
 (OMIM) Hypoplastic orbital ridges 1 / 7739
95
 (HPO:0002282) Heterotopia 21 / 7739
96
 (OMIM) Small brainstem 4 / 7739
97
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
98
 (OMIM) Upper limb rhizomelia 1 / 7739
99
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
100
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
101
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
102
 (OMIM) Long hair 1 / 7739
103
 (OMIM) Gastroesophageal reflux, severe 3 / 7739
104
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
105
 (OMIM) Focal nodular heterotopia 1 / 7739
106
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
107
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
108
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
109
 (HPO:0012448) Delayed myelination 51 / 7739
110
 (OMIM) Ulnar deviation of the metacarpophalangeal joints 1 / 7739
111
 (OMIM) Optic nerve abnormalities 1 / 7739
112
 (OMIM) Unusual upper limb position (elbow and wrist flexion) 1 / 7739
113
 (OMIM) Retinal abnormalities 1 / 7739
114
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Bohring-Opitz syndrome is a malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists ...
Diagnosis OMIM The observation of a common phenotype in Bohring-Opitz syndrome has led to the development of diagnostic criteria, including microcephaly, trigonocephaly, palatal abnormalities, prominent eyes and hypoplastic supraorbital ridges, upslanting palpebral fissures, depressed nasal bridge and anteverted nares, facial ...
Clinical Description OMIM Bohring et al. (1999) presented 4 unrelated cases of a syndrome resembling Opitz trigonocephaly (C) syndrome (211750). However, these cases differed from C syndrome on the basis of intrauterine growth retardation, cleft lip/palate, exophthalmos, retinal involvement, flexion deformities ...
Molecular genetics OMIM By exome sequencing in combination with direct sequencing, Hoischen et al. (2011) identified 7 different de novo heterozygous nonsense or truncating mutations in the ASXL1 gene (see, e.g., 612990.0001-612990.0005) in 7 of 13 unrelated patients with Bohring-Opitz syndrome. ...