Trichorhinophalangeal syndrome type 1 and 3

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 63
OrphanetNr: 77258
OMIM Id: 190350
190351
ICD-10: Q87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 100 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Trichorhinophalangeal syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000689) Dental malocclusion 114 / 7739
2
 (HPO:0000670) Carious teeth 145 / 7739
3
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
4
 (HPO:0000447) Pear-shaped nose 5 / 7739
5
 (HPO:0000347) Micrognathia 426 / 7739
6
 (HPO:0000189) Narrow palate 45 / 7739
7
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
8
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
9
 (HPO:0011069) Increased number of teeth Frequent [Orphanet] 39 / 7739
10
 (HPO:0005338) Sparse lateral eyebrow 21 / 7739
11
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
12
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
13
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
14
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
15
 (HPO:0011823) Chin with horizontal crease 1 / 7739
16
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
17
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
18
 (HPO:0002002) Deep philtrum 42 / 7739
19
 (HPO:0000325) Triangular face Very frequent [Orphanet] 91 / 7739
20
 (HPO:0000691) Microdontia 104 / 7739
21
 (HPO:0000684) Delayed eruption of teeth 117 / 7739
22
 (HPO:0000400) Macrotia 108 / 7739
23
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
24
 (HPO:0000768) Pectus carinatum Frequent [Orphanet] 136 / 7739
25
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
26
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
27
 (HPO:0002758) Osteoarthritis 78 / 7739
28
 (HPO:0001763) Pes planus 176 / 7739
29
 (HPO:0002829) Arthralgia 79 / 7739
30
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
31
 (HPO:0010259) Cone-shaped epiphyses of the middle phalanges of the hand 4 / 7739
32
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
33
 (HPO:0010579) Cone-shaped epiphysis Very frequent [Orphanet] 54 / 7739
34
 (HPO:0003370) Flat capital femoral epiphysis 15 / 7739
35
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
36
 (HPO:0006253) Swelling of proximal interphalangeal joints 3 / 7739
37
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
38
 (HPO:0002805) Accelerated bone age after puberty 3 / 7739
39
 (HPO:0003691) Scapular winging 51 / 7739
40
 (HPO:0000938) Osteopenia 138 / 7739
41
 (HPO:0010743) Short metatarsal 56 / 7739
42
 (HPO:0010252) Ivory epiphyses of the distal phalanges of the hand 2 / 7739
43
 (HPO:0005743) Avascular necrosis of the capital femoral epiphysis 17 / 7739
44
 (HPO:0010270) Cone-shaped epiphyses of the proximal phalanges of the hand 1 / 7739
45
 (HPO:0010049) Short metacarpal 99 / 7739
46
 (HPO:0003279) Coxa magna 3 / 7739
47
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
48
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
49
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
50
 (HPO:0001598) Concave nail 14 / 7739
51
 (HPO:0002217) Slow-growing hair 22 / 7739
52
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
53
 (HPO:0002213) Fine hair 77 / 7739
54
 (HPO:0008070) Sparse hair 94 / 7739
55
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
56
 (HPO:0001816) Thin nail 11 / 7739
57
 (HPO:0001820) Leukonychia 18 / 7739
58
 (HPO:0010300) Abnormally low-pitched voice 2 / 7739
59
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
60
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
61
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
62
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
63
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: