THORACOLARYNGOPELVIC DYSPLASIA

General Information (adopted from Orphanet):

Synonyms, Signs: BARNES SYNDROME
TLPD
Number of Symptoms 15
OrphanetNr:
OMIM Id: 187760
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:0006606) Irregular chondrocostal junctions 3 / 7739
2
 (HPO:0003275) Narrow pelvis bone 8 / 7739
3
 (HPO:0002650) Scoliosis 705 / 7739
4
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
5
 (HPO:0001591) Bell-shaped thorax 35 / 7739
6
 (HPO:0003016) Metaphyseal widening 41 / 7739
7
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
8
 (HPO:0001533) Slender build 11 / 7739
9
 (HPO:0001602) Laryngeal stenosis 21 / 7739
10
 (OMIM) Small, rigid chest 1 / 7739
11
 (OMIM) Small pelvis necessitates caesarean section 1 / 7739
12
 (OMIM) Shallow sacroiliac notch 1 / 7739
13
 (OMIM) Flared iliac crest 1 / 7739
14
 (OMIM) Short, horizontal ribs 4 / 7739
15
 (OMIM) Normal height 8 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: