C syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: TRIGONOCEPHALY SYNDROME
Trigonocephaly C syndrome
opitz trigonocephaly syndrome
Number of Symptoms 94
OrphanetNr: 1308
OMIM Id: 211750
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

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
Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
2
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
3
 (HPO:0000803) Renal cortical cysts 3 / 7739
4
 (HPO:0010458) Female pseudohermaphroditism Very frequent [Orphanet] 17 / 7739
5
 (HPO:0000028) Cryptorchidism 347 / 7739
6
 (HPO:0000057) Clitoromegaly 30 / 7739
7
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
8
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
9
 (HPO:0000218) High palate 356 / 7739
10
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
11
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
12
 (HPO:0000154) Wide mouth 137 / 7739
13
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
14
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
15
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
16
 (HPO:0009553) Abnormality of the hairline Occasional [Orphanet] 30 / 7739
17
 (HPO:0000347) Micrognathia 426 / 7739
18
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
19
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
20
 (HPO:0000431) Wide nasal bridge 290 / 7739
21
 (HPO:0000191) Accessory oral frenulum 6 / 7739
22
 (HPO:0000243) Trigonocephaly Very frequent [Orphanet] 40 / 7739
23
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
24
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
25
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
26
 (HPO:0010285) Oral synechia Frequent [Orphanet] 31 / 7739
27
 (HPO:0000168) Abnormality of the gingiva Very frequent [Orphanet] 51 / 7739
28
 (HPO:0009100) Thick anterior alveolar ridges 1 / 7739
29
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
30
 (HPO:0000288) Abnormality of the philtrum Very frequent [Orphanet] 54 / 7739
31
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
32
 (HPO:0000341) Narrow forehead Very frequent [Orphanet] 96 / 7739
33
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
34
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
35
 (HPO:0100720) Hypoplasia of the ear cartilage Very frequent [Orphanet] 12 / 7739
36
 (HPO:0000369) Low-set ears 372 / 7739
37
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
38
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
39
 (HPO:0001263) Global developmental delay 853 / 7739
40
 (HPO:0009466) Radial deviation of finger 101 / 7739
41
 (HPO:0009465) Ulnar deviation of finger 48 / 7739
42
 (HPO:0100259) Postaxial polydactyly 85 / 7739
43
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
44
 (HPO:0001830) Postaxial foot polydactyly 37 / 7739
45
 (HPO:0006643) Fused sternal ossification centers 1 / 7739
46
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
47
 (HPO:0002650) Scoliosis 705 / 7739
48
 (HPO:0000766) Abnormality of the sternum 31 / 7739
49
 (HPO:0003083) Dislocated radial head 35 / 7739
50
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
51
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
52
 (HPO:0002983) Micromelia Frequent [Orphanet] 130 / 7739
53
 (HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
54
 (HPO:0001373) Joint dislocation Frequent [Orphanet] 59 / 7739
55
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
56
 (HPO:0004097) Deviation of finger 13 / 7739
57
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
58
 (HPO:0001159) Syndactyly 140 / 7739
59
 (HPO:0010769) Pilonidal sinus Frequent [Orphanet] 35 / 7739
60
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
61
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
62
 (HPO:0010049) Short metacarpal 99 / 7739
63
 (HPO:0002827) Hip dislocation 94 / 7739
64
 (HPO:0001561) Polyhydramnios Occasional [Orphanet] 191 / 7739
65
 (HPO:0002023) Anal atresia Frequent [Orphanet] 135 / 7739
66
 (HPO:0002240) Hepatomegaly 467 / 7739
67
 (HPO:0002019) Constipation Occasional [Orphanet] 194 / 7739
68
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Occasional [Orphanet] 55 / 7739
69
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
70
 (HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
71
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
72
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
73
 (HPO:0001508) Failure to thrive 454 / 7739
74
 (HPO:0001052) Nevus flammeus Frequent [Orphanet] 88 / 7739
75
 (HPO:0000973) Cutis laxa 43 / 7739
76
 (HPO:0001582) Redundant skin Frequent [Orphanet] 51 / 7739
77
 (HPO:0001629) Ventricular septal defect 316 / 7739
78
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
79
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
80
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
81
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
82
 (HPO:0010547) Muscle flaccidity 466 / 7739
83
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
84
 (HPO:0001324) Muscle weakness 859 / 7739
85
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
86
 (MedDRA:10058668) Clinodactyly 91 / 7739
87
 (OMIM) Anomalous ribs 1 / 7739
88
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
89
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
90
 (OMIM) Short limbs 17 / 7739
91
 (OMIM) Oral frenula 3 / 7739
92
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
93
 (OMIM) Terminal transverse limb reduction 1 / 7739
94
 (HPO:0030084) Clinodactyly 90 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, ...
Clinical Description OMIM Opitz et al. (1969) described a brother and sister with a malformation syndrome that included unusual facies, polydactyly, cardiac abnormality and, in the boy, cryptorchidism.

Antley et al. (1981) brought the total number of cases to ...
Molecular genetics OMIM In the patient with C syndrome with a balanced chromosomal translocation t(3;18) reported by Chinen et al. (2006), Kaname et al. (2007) found that the CD96 gene was disrupted at the 3q13.13 breakpoint (606037.0001). In mutation analysis of ...