Achondrogenesis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 41
OrphanetNr: 932
OMIM Id: 200600
200610
600972
ICD-10: Q77.0
UMLs: C0001079
MeSH:
MedDRA: 10066122
Snomed: 2391001

Prevalence, inheritance and age of onset:

Prevalence: 2.8 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Spondylodysplastic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
2
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
3
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
4
 (HPO:0000476) Cystic hygroma Occasional [Orphanet] 22 / 7739
5
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
6
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
7
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
8
 (HPO:0004331) Decreased skull ossification 31 / 7739
9
 (HPO:0005280) Depressed nasal bridge 381 / 7739
10
 (HPO:0005989) Redundant neck skin Very frequent [Orphanet] 40 / 7739
11
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
12
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
13
 (HPO:0010660) Abnormal hand bone ossification 2 / 7739
14
 (HPO:0006489) Abnormality of the femoral metaphysis 1 / 7739
15
 (HPO:0001552) Barrel-shaped chest 31 / 7739
16
 (HPO:0000773) Short ribs 70 / 7739
17
 (HPO:0010675) Abnormal foot bone ossification 3 / 7739
18
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
19
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
20
 (HPO:0000894) Short clavicles 30 / 7739
21
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
22
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
23
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
24
 (HPO:0000916) Broad clavicles 6 / 7739
25
 (HPO:0000923) Beaded ribs 5 / 7739
26
 (HPO:0004606) Unossified vertebral bodies 4 / 7739
27
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
28
 (HPO:0000882) Hypoplastic scapulae 28 / 7739
29
 (HPO:0003175) Hypoplastic ischia 12 / 7739
30
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
31
 (HPO:0001789) Hydrops fetalis Very frequent [Orphanet] 63 / 7739
32
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
33
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
34
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
35
 (HPO:0001538) Protuberant abdomen 36 / 7739
36
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
37
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
38
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
39
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
40
 (HPO:0003826) Stillbirth 40 / 7739
41
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: