OPITZ-KAVEGGIA SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM
KELLER SYNDROME
FG SYNDROME
FG SYNDROME 1
FGS1
FGS
OKS
Number of Symptoms 81
OrphanetNr:
OMIM Id: 305450
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000047) Hypospadias 250 / 7739
3
(HPO:0000189) Narrow palate 45 / 7739
4
(HPO:0011220) Prominent forehead 137 / 7739
5
(HPO:0000260) Wide anterior fontanel 55 / 7739
6
(HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
7
(HPO:0000448) Prominent nose 56 / 7739
8
(HPO:0001739) Abnormality of the nasopharynx 16 / 7739
9
(HPO:0000453) Choanal atresia 76 / 7739
10
(HPO:0000154) Wide mouth 137 / 7739
11
(HPO:0000256) Macrocephaly 298 / 7739
12
(HPO:0000343) Long philtrum 262 / 7739
13
(HPO:0000678) Dental crowding 65 / 7739
14
(HPO:0002007) Frontal bossing 366 / 7739
15
(HPO:0000204) Cleft upper lip 193 / 7739
16
(HPO:0000179) Thick lower lip vermilion 72 / 7739
17
(HPO:0005490) Postnatal macrocephaly 3 / 7739
18
(HPO:0000175) Cleft palate 349 / 7739
19
(HPO:0000347) Micrognathia 426 / 7739
20
(HPO:0000286) Epicanthus 371 / 7739
21
(HPO:0000470) Short neck 345 / 7739
22
(HPO:0000316) Hypertelorism 644 / 7739
23
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
24
(HPO:0001357) Plagiocephaly 106 / 7739
25
(HPO:0000486) Strabismus 576 / 7739
26
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
27
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
28
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
29
(HPO:0011266) Microtia, first degree 4 / 7739
30
(HPO:0008551) Microtia 98 / 7739
31
(HPO:0001250) Seizures 1245 / 7739
32
(HPO:0001263) Global developmental delay 853 / 7739
33
(HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
34
(HPO:0001270) Motor delay 322 / 7739
35
(HPO:0000752) Hyperactivity 140 / 7739
36
(HPO:0001249) Intellectual disability 1089 / 7739
37
(HPO:0000766) Abnormality of the sternum 31 / 7739
38
(HPO:0000960) Sacral dimple 29 / 7739
39
(HPO:0012385) Camptodactyly 113 / 7739
40
(HPO:0001371) Flexion contracture 220 / 7739
41
(HPO:0001171) Split hand 72 / 7739
42
(HPO:0009473) Joint contracture of the hand 84 / 7739
43
(HPO:0009466) Radial deviation of finger 101 / 7739
44
(HPO:0001212) Prominent fingertip pads 12 / 7739
45
(HPO:0001159) Syndactyly 140 / 7739
46
(HPO:0002938) Lumbar hyperlordosis 73 / 7739
47
(HPO:0011304) Broad thumb 39 / 7739
48
(HPO:0002828) Multiple joint contractures 16 / 7739
49
(HPO:0010055) Broad hallux 56 / 7739
50
(HPO:0000954) Single transverse palmar crease 162 / 7739
51
(HPO:0005833) Joint swelling onset late infancy 2 / 7739
52
(HPO:0002021) Pyloric stenosis 51 / 7739
53
(HPO:0002025) Anal stenosis 23 / 7739
54
(HPO:0001537) Umbilical hernia 206 / 7739
55
(HPO:0002566) Intestinal malrotation 89 / 7739
56
(HPO:0001545) Anteriorly placed anus 55 / 7739
57
(HPO:0002023) Anal atresia 135 / 7739
58
(HPO:0000023) Inguinal hernia 181 / 7739
59
(HPO:0002019) Constipation 194 / 7739
60
(HPO:0004322) Short stature 1232 / 7739
61
(HPO:0010609) Skin tags 12 / 7739
62
(HPO:0002236) Frontal upsweep of hair 8 / 7739
63
(HPO:0009762) Facial wrinkling 3 / 7739
64
(HPO:0008070) Sparse hair 94 / 7739
65
(HPO:0002213) Fine hair 77 / 7739
66
(HPO:0001627) Abnormal heart morphology 19 / 7739
67
(HPO:0001620) High pitched voice 32 / 7739
68
(HPO:0001319) Neonatal hypotonia 101 / 7739
69
(HPO:0001338) Partial agenesis of the corpus callosum 22 / 7739
70
(OMIM) Friendly, sociable personality 1 / 7739
71
(OMIM) Joint hyperlaxity 5 / 7739
72
(HPO:0001419) X-linked recessive inheritance 189 / 7739
73
(HPO:0030084) Clinodactyly 90 / 7739
74
(MedDRA:10058668) Clinodactyly 91 / 7739
75
(HPO:0002282) Heterotopia 21 / 7739
76
(OMIM) Perianal skin tags 1 / 7739
77
(HPO:0000238) Hydrocephalus 278 / 7739
78
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
79
(OMIM) Frontal hair upsweep 2 / 7739
80
(OMIM) Broad halluces 12 / 7739
81
(OMIM) Medial eyebrow flare 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Opitz-Kaveggia syndrome (OKS) is an X-linked recessive mental retardation syndrome characterized by dysmorphic features, including relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, and broad thumbs and halluces. Most have hypotonia, constipation, and partial ...
Clinical Description OMIM Opitz and Kaveggia (1974) described 3 brothers and 2 of their male first cousins who were affected with mental retardation, disproportionately large head, imperforate anus, and congenital hypotonia. Partial agenesis of the corpus callosum was proved in one ...
Molecular genetics OMIM Insights into the pathogenesis of Opitz-Kaveggia syndrome were gained in the course of evaluating candidate genes that influence thyroid function (Risheg et al., 2007). One such candidate gene, located at Xq13, is MED12 (300188), which encodes a thyroid ...