Langer-Giedion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: LANGER-GIEDION SYNDROME
LGS
TRPS2
Trichorhinophalangeal syndrome type 2
Deletion 8q24.1
CHROMOSOME 8q24.1 DELETION SYNDROME
Monosomy 8q24.1
Number of Symptoms 72
OrphanetNr: 502
OMIM Id: 150230
ICD-10: Q87.8
UMLs: C0023003
C2931237
MeSH: C536555
D015826
MedDRA: 10050638
Snomed: 41069008

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Partial deletion of the long arm of chromosome 8
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Trichorhinophalangeal syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000010) Recurrent urinary tract infections Occasional [Orphanet] 56 / 7739
2
 (HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 94 / 7739
3
 (HPO:0000148) Vaginal atresia 16 / 7739
4
 (HPO:0000142) Abnormality of the vagina 24 / 7739
5
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
6
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
7
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
8
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
9
 (HPO:0002788) Recurrent upper respiratory tract infections 31 / 7739
10
 (HPO:0009928) Thick nasal alae Occasional [Orphanet] 21 / 7739
11
 (HPO:0011069) Increased number of teeth Occasional [Orphanet] 39 / 7739
12
 (HPO:0002209) Sparse scalp hair 59 / 7739
13
 (HPO:0000288) Abnormality of the philtrum Very frequent [Orphanet] 54 / 7739
14
 (HPO:0000414) Bulbous nose 63 / 7739
15
 (HPO:0002002) Deep philtrum 42 / 7739
16
 (HPO:0000431) Wide nasal bridge 290 / 7739
17
 (HPO:0000490) Deeply set eye 131 / 7739
18
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
19
 (HPO:0000574) Thick eyebrow Frequent [Orphanet] 96 / 7739
20
 (HPO:0000308) Microretrognathia Frequent [Orphanet] 78 / 7739
21
 (HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
22
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
23
 (HPO:0000577) Exotropia 43 / 7739
24
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
25
 (HPO:0000365) Hearing impairment 539 / 7739
26
 (HPO:0000405) Conductive hearing impairment Occasional [Orphanet] 164 / 7739
27
 (HPO:0000400) Macrotia 108 / 7739
28
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
29
 (HPO:0000750) Delayed speech and language development 197 / 7739
30
 (HPO:0001249) Intellectual disability 1089 / 7739
31
 (HPO:0000918) Scapular exostoses 4 / 7739
32
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
33
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
34
 (HPO:0002823) Abnormality of the femur Occasional [Orphanet] 61 / 7739
35
 (HPO:0100777) Exostoses Very frequent [Orphanet] 32 / 7739
36
 (HPO:0001373) Joint dislocation Frequent [Orphanet] 59 / 7739
37
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
38
 (HPO:0000896) Rib exostoses 4 / 7739
39
 (HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
40
 (HPO:0005039) Multiple long-bone exostoses 1 / 7739
41
 (HPO:0003691) Scapular winging 51 / 7739
42
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
43
 (HPO:0001159) Syndactyly 140 / 7739
44
 (HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
45
 (HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
46
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
47
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
48
 (HPO:0005743) Avascular necrosis of the capital femoral epiphysis 17 / 7739
49
 (HPO:0010579) Cone-shaped epiphysis Very frequent [Orphanet] 54 / 7739
50
 (HPO:0010622) Neoplasm of the skeletal system Very frequent [Orphanet] 30 / 7739
51
 (HPO:0002650) Scoliosis 705 / 7739
52
 (HPO:0001530) Mild postnatal growth retardation 7 / 7739
53
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
54
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
55
 (HPO:0001582) Redundant skin Frequent [Orphanet] 51 / 7739
56
 (HPO:0001808) Fragile nails 21 / 7739
57
 (HPO:0007595) Redundant skin in infancy 1 / 7739
58
 (HPO:0003764) Nevus 17 / 7739
59
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
60
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
61
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
62
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
63
 (HPO:0001324) Muscle weakness 859 / 7739
64
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
65
 (HPO:0010547) Muscle flaccidity 466 / 7739
66
 (OMIM) Predisposition to fracture 1 / 7739
67
 (HPO:0030010) Hydrometrocolpos 6 / 7739
68
 (OMIM) Chromosome deletion extending from 8q24.11 to 8q24.13 1 / 7739
69
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
70
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
71
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
72
 (OMIM) Tented, thickened alae nasi 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hall et al. (1974) described a condition that they called the Langer-Giedion syndrome in which affected individuals had multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse ...
Molecular genetics OMIM Using YAC cloning, Southern blotting, PCR analysis, and fluorescence in situ hybridization in the study of chromosome 8 deletions, translocations, an inversion, and an insertion in patients with TRPS I, Langer-Giedion syndrome, or multiple exostoses type I, Ludecke ...