TRICHORHINOPHALANGEAL SYNDROME, TYPE III

General Information (adopted from Orphanet):

Synonyms, Signs: SUGIO-KAJII SYNDROME
TRPS3
Number of Symptoms 35
OrphanetNr:
OMIM Id: 190351
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005338) Sparse lateral eyebrow 21 / 7739
2
(HPO:0000447) Pear-shaped nose 5 / 7739
3
(HPO:0000343) Long philtrum 262 / 7739
4
(HPO:0000678) Dental crowding 65 / 7739
5
(HPO:0000430) Underdeveloped nasal alae 90 / 7739
6
(HPO:0000319) Smooth philtrum 72 / 7739
7
(HPO:0011069) Increased number of teeth 39 / 7739
8
(HPO:0000219) Thin upper lip vermilion 112 / 7739
9
(HPO:0000411) Protruding ear 140 / 7739
10
(HPO:0000707) Abnormality of the nervous system 61 / 7739
11
(HPO:0009381) Short finger 45 / 7739
12
(HPO:0002650) Scoliosis 705 / 7739
13
(HPO:0001773) Short foot 86 / 7739
14
(HPO:0002750) Delayed skeletal maturation 250 / 7739
15
(HPO:0005743) Avascular necrosis of the capital femoral epiphysis 17 / 7739
16
(HPO:0010049) Short metacarpal 99 / 7739
17
(HPO:0002805) Accelerated bone age after puberty 3 / 7739
18
(HPO:0004279) Short palm 323 / 7739
19
(HPO:0010259) Cone-shaped epiphyses of the middle phalanges of the hand 4 / 7739
20
(HPO:0010743) Short metatarsal 56 / 7739
21
(HPO:0009803) Short phalanx of finger 79 / 7739
22
(HPO:0000938) Osteopenia 138 / 7739
23
(HPO:0010579) Cone-shaped epiphysis 54 / 7739
24
(HPO:0003279) Coxa magna 3 / 7739
25
(HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
26
(HPO:0004322) Short stature 1232 / 7739
27
(HPO:0008070) Sparse hair 94 / 7739
28
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
29
(OMIM) Mild osteopenia 3 / 7739
30
(OMIM) Normal intelligence 81 / 7739
31
(OMIM) Birth length normal 15 / 7739
32
(OMIM) Absence of exostoses 1 / 7739
33
(OMIM) Long, flat philtrum 5 / 7739
34
(OMIM) Birth weight normal 14 / 7739
35
(OMIM) Brachydactyly, severe 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sugio and Kajii (1984) described a kindred in which 9 persons in 4 generations showed a syndrome of sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening. They reported the condition as an example of Ruvalcaba ...
Molecular genetics OMIM To investigate whether TRPS III is caused by mutations in the TRPS1 gene and to establish a genotype-phenotype correlation in TRPS, Ludecke et al. (2001) performed extensive mutation analysis and evaluated height and degree of brachydactyly in patients ...