Achondrogenesis type 2

General Information (adopted from Orphanet):

Synonyms, Signs: ACHONDROGENESIS, TYPE IB, FORMERLY HYPOCHONDROGENESIS, INCLUDED
CHONDROGENESIS IMPERFECTA
ACG2
achondrogenesis, langer-saldino type
Number of Symptoms 51
OrphanetNr: 93296
OMIM Id: 200610
ICD-10: Q77.0
UMLs: C0220685
MeSH: C536017
MedDRA:
Snomed: 254061001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Achondrogenesis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Type 2 collagen-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
2
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
3
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
4
 (HPO:0005989) Redundant neck skin Very frequent [Orphanet] 40 / 7739
5
 (HPO:0000476) Cystic hygroma Occasional [Orphanet] 22 / 7739
6
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
7
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
8
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
9
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
10
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
11
 (HPO:0000175) Cleft palate 349 / 7739
12
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
13
 (HPO:0000773) Short ribs 70 / 7739
14
 (HPO:0000888) Horizontal ribs 12 / 7739
15
 (HPO:0004605) Absent vertebral body mineralization 2 / 7739
16
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
17
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
18
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
19
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
20
 (HPO:0001760) Abnormality of the foot 96 / 7739
21
 (HPO:0005622) Broad long bones 8 / 7739
22
 (HPO:0001552) Barrel-shaped chest 31 / 7739
23
 (HPO:0001248) Short tubular bones of the hand 4 / 7739
24
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
25
 (HPO:0003026) Short long bone 51 / 7739
26
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
27
 (HPO:0001162) Postaxial hand polydactyly Occasional [Orphanet] 119 / 7739
28
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
29
 (HPO:0001789) Hydrops fetalis Very frequent [Orphanet] 63 / 7739
30
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
31
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
32
 (HPO:0003270) Abdominal distention 46 / 7739
33
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
34
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
35
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
36
 (HPO:0000969) Edema 117 / 7739
37
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
38
 (OMIM) Stillborn or death shortly after birth 3 / 7739
39
 (OMIM) Non-ossified talus and calcaneus 2 / 7739
40
 (OMIM) Enlarged calvaria with normal ossification 2 / 7739
41
 (OMIM) Dwarfism, marked micromelic 3 / 7739
42
 (OMIM) Normal clavicles 2 / 7739
43
 (OMIM) Flared, cupped metaphyses 2 / 7739
44
 (OMIM) Very short, broad tubular bones 2 / 7739
45
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
46
 (OMIM) Non-ossified sacrum, ischial, and pubic bones 2 / 7739
47
 (OMIM) Small iliac wings with concave inferior and medial margin 2 / 7739
48
 (OMIM) Fetal hydrops 15 / 7739
49
 (OMIM) Short, horizontal ribs 4 / 7739
50
 (HPO:0003826) Stillbirth 40 / 7739
51
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Achondrogenesis type II is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. This form is an autosomal dominant trait occurring mostly as new ...
Clinical Description OMIM Spranger et al. (1974) distinguished 2 forms of achondrogenesis, which they called types I and II. Type I was subdivided into type IA (200600) and IB (600972). In type I, the ribs tend to be thin, often with ...
Molecular genetics OMIM In a case of type II achondrogenesis-hypochondrogenesis, Vissing et al. (1989) demonstrated heterozygosity for a missense mutation in the COL2A1 gene (120140.0002).

In an infant with a severe form of skeletal dysplasia who required continuous respiratory ...