Short-rib thoracic dysplasia 3 with or without polydactyly

General Information (adopted from Orphanet):

Synonyms, Signs: ATD3
Number of Symptoms 41
OrphanetNr:
OMIM Id: 613091
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:0000113) Polycystic kidney dysplasia 75 / 7739
2
(HPO:0000105) Enlarged kidneys 30 / 7739
3
(HPO:0000110) Renal dysplasia 44 / 7739
4
(HPO:0000062) Ambiguous genitalia rare [HPO:skoehler] 74 / 7739
5
(HPO:0000054) Micropenis rare [HPO:skoehler] 257 / 7739
6
(HPO:0010297) Bifid tongue rare [HPO:skoehler] 17 / 7739
7
(HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
8
(HPO:0000204) Cleft upper lip rare [HPO:skoehler] 193 / 7739
9
(HPO:0002650) Scoliosis 705 / 7739
10
(HPO:0100258) Preaxial polydactyly rare [HPO:skoehler] 39 / 7739
11
(HPO:0010579) Cone-shaped epiphysis 54 / 7739
12
(HPO:0000888) Horizontal ribs 12 / 7739
13
(HPO:0005257) Thoracic hypoplasia 79 / 7739
14
(HPO:0002980) Femoral bowing 36 / 7739
15
(HPO:0001762) Talipes equinovarus rare [HPO:skoehler] 309 / 7739
16
(HPO:0003022) Hypoplasia of the ulna rare [HPO:skoehler] 40 / 7739
17
(HPO:0009556) Absent tibia 9 / 7739
18
(HPO:0003016) Metaphyseal widening 41 / 7739
19
(HPO:0003038) Fibular hypoplasia rare [HPO:skoehler] 30 / 7739
20
(HPO:0000773) Short ribs 70 / 7739
21
(HPO:0000895) Lateral clavicle hook 11 / 7739
22
(HPO:0003026) Short long bone 51 / 7739
23
(HPO:0005054) Metaphyseal spurs 4 / 7739
24
(HPO:0001156) Brachydactyly syndrome 180 / 7739
25
(HPO:0010454) Acetabular spurs 4 / 7739
26
(HPO:0100259) Postaxial polydactyly rare [HPO:skoehler] 85 / 7739
27
(HPO:0002023) Anal atresia rare [HPO:skoehler] 135 / 7739
28
(HPO:0002566) Intestinal malrotation rare [HPO:skoehler] 89 / 7739
29
(HPO:0004322) Short stature 1232 / 7739
30
(OMIM) Defect in retrograde intraflagellar transport in cilia 1 / 7739
31
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
32
(HPO:0002350) Cerebellar cyst rare [HPO:skoehler] 14 / 7739
33
(HPO:0001274) Agenesis of corpus callosum rare [HPO:skoehler] 142 / 7739
34
(MedDRA:10072883) Brachydactyly 153 / 7739
35
(OMIM) Handlebar clavicles 3 / 7739
36
(OMIM) Respiratory problems due to small thorax 1 / 7739
37
(HPO:0010984) Digenic inheritance 4 / 7739
38
(OMIM) Shortened femurs 2 / 7739
39
(OMIM) Small ilia 5 / 7739
40
(OMIM) Shortened ribs 1 / 7739
41
(OMIM) No polydactyly 3 / 7739

Associated genes:

DYNC2H1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Asphyxiating thoracic dystrophy-3 is an autosomal recessive skeletal ciliopathy characterized mainly by small thorax due to shortened ribs, brachydactyly, and shortened long bones. Although short stature is present in childhood, most patients achieve normal height by adolescence or ...
Clinical Description OMIM Through a study to identify the molecular basis of asphyxiating thoracic dystrophy (ATD) and the related but more severe disorder short rib-polydactyly syndrome (see 263530), Dagoneau et al. (2009) identified 3 families with ATD. Criteria for inclusion in ...
Molecular genetics OMIM Among the genes in the 20.4-Mb critical region for ATD, Dagoneau et al. (2009) considered DYNC2H1 a good candidate gene because it encodes a subunit of a cytoplasmic dynein complex. The authors sequenced all 90 exons of the ...