Short-rib thoracic dysplasia 2 with or without polydactyly

General Information (adopted from Orphanet):

Synonyms, Signs: ATD2
Number of Symptoms 13
OrphanetNr:
OMIM Id: 611263
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008905) Rhizomelia 85 / 7739
2
(HPO:0001773) Short foot 86 / 7739
3
(HPO:0003097) Short femur 13 / 7739
4
(HPO:0002980) Femoral bowing 36 / 7739
5
(HPO:0001169) Broad palm 43 / 7739
6
(HPO:0001162) Postaxial hand polydactyly 119 / 7739
7
(HPO:0010049) Short metacarpal 99 / 7739
8
(HPO:0003027) Mesomelia 58 / 7739
9
(HPO:0000774) Narrow chest 167 / 7739
10
(HPO:0001156) Brachydactyly syndrome 180 / 7739
11
(MedDRA:10072883) Brachydactyly 153 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(OMIM) Trident acetabular roofs 2 / 7739

Associated genes:

IFT80;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Beales et al. (2007) reported 3 consanguineous families with a form of asphyxiating thoracic dystrophy: 2 families were from Pakistan and 1 was from Turkey. The Turkish child had a narrow chest, short femora, and postaxial polydactyly on ...
Molecular genetics OMIM In affected members of 3 consanguineous families with ATD2, Beales et al. (2007) identified 3 different homozygous mutations in the IFT8 gene (611177.0001-611177.0003).