KBG syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MACRODONTIA, MENTAL RETARDATION, CHARACTERISTIC FACIES, SHORT STATURE, AND SKELETAL ANOMALIES
KBGS
Short stature - facial and skeletal anomalies - intellectual deficit - macrodontia
Number of Symptoms 62
OrphanetNr: 2332
OMIM Id: 148050
ICD-10: Q87.8
UMLs: C0220687
MeSH: C537015
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 59 cases [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
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:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
4
 (HPO:0000637) Long palpebral fissure 21 / 7739
5
 (HPO:0000574) Thick eyebrow 96 / 7739
6
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
7
 (HPO:0000343) Long philtrum 262 / 7739
8
 (HPO:0000677) Oligodontia 41 / 7739
9
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
10
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
11
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
12
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
13
 (HPO:0001566) Widely-spaced maxillary central incisors 15 / 7739
14
 (HPO:0001572) Macrodontia Very frequent [Orphanet] 9 / 7739
15
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
16
 (HPO:0000307) Pointed chin Occasional [Orphanet] 45 / 7739
17
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
18
 (HPO:0002162) Low posterior hairline Frequent [Orphanet] 88 / 7739
19
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
20
 (HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
21
 (HPO:0000325) Triangular face 91 / 7739
22
 (HPO:0000463) Anteverted nares 305 / 7739
23
 (HPO:0000294) Low anterior hairline 52 / 7739
24
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
25
 (HPO:0000252) Microcephaly 832 / 7739
26
 (HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
27
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
28
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
29
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
30
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
31
 (HPO:0000400) Macrotia 108 / 7739
32
 (HPO:0001249) Intellectual disability 1089 / 7739
33
 (HPO:0001263) Global developmental delay 853 / 7739
34
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
35
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
36
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
37
 (HPO:0000902) Rib fusion 19 / 7739
38
 (HPO:0002948) Vertebral fusion 28 / 7739
39
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
40
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
41
 (HPO:0001162) Postaxial hand polydactyly Occasional [Orphanet] 119 / 7739
42
 (HPO:0008438) Vertebral arch anomaly 1 / 7739
43
 (HPO:0002942) Thoracic kyphosis 14 / 7739
44
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
45
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
46
 (HPO:0009466) Radial deviation of finger 101 / 7739
47
 (HPO:0000891) Cervical ribs 8 / 7739
48
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
49
 (HPO:0001159) Syndactyly 140 / 7739
50
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
51
 (OMIM) Cervical rib fusion 1 / 7739
52
 (OMIM) Triangular face later in life 1 / 7739
53
 (OMIM) Ridged teeth 1 / 7739
54
 (OMIM) Round face early in life 1 / 7739
55
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
56
 (HPO:0030084) Clinodactyly 90 / 7739
57
 (OMIM) Decreased hand length 1 / 7739
58
 (OMIM) Broad bushy eyebrows 1 / 7739
59
 (OMIM) Accessory cervical ribs 1 / 7739
60
 (MedDRA:10058668) Clinodactyly 91 / 7739
61
 (OMIM) Fused incisors 1 / 7739
62
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) KBG syndrome is characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability (summary by Sirmaci et al., 2011). Sirmaci et ...
Clinical Description OMIM Herrmann et al. (1975) described 2 families in which multiple members had short stature, characteristic facies (telecanthus, wide eyebrows, brachycephaly), macrodontia, mental retardation, and skeletal anomalies (abnormal vertebrae, short metacarpals, short femoral necks). Male-to-male transmission occurred in 1 ...
Molecular genetics OMIM In the Turkish family with KBG syndrome originally reported by Tekin et al. (2004), Sirmaci et al. (2011) performed whole-exome capture followed by next-generation sequencing and identified a heterozygous splice site variant in the ANKRD11 gene (611192.0001) that ...