Hypochondrogenesis

General Information (adopted from Orphanet):

Synonyms, Signs: ACHONDROGENESIS, TYPE IB, FORMERLY HYPOCHONDROGENESIS, INCLUDED
CHONDROGENESIS IMPERFECTA
ACHONDROGENESIS, LANGER-SALDINO TYPE
ACG2
Number of Symptoms 19
OrphanetNr: 93297
OMIM Id: 200610
ICD-10: Q77.0
UMLs: C0542428
MeSH:
MedDRA:
Snomed: 205483007

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:0000175) Cleft palate 349 / 7739
2
 (HPO:0000476) Cystic hygroma 22 / 7739
3
 (HPO:0003026) Short long bone 51 / 7739
4
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
5
 (HPO:0001552) Barrel-shaped chest 31 / 7739
6
 (HPO:0004605) Absent vertebral body mineralization 2 / 7739
7
 (HPO:0001561) Polyhydramnios 191 / 7739
8
 (HPO:0003270) Abdominal distention 46 / 7739
9
 (OMIM) Very short, broad tubular bones 2 / 7739
10
 (OMIM) Flared, cupped metaphyses 2 / 7739
11
 (OMIM) Non-ossified sacrum, ischial, and pubic bones 2 / 7739
12
 (OMIM) Enlarged calvaria with normal ossification 2 / 7739
13
 (OMIM) Small iliac wings with concave inferior and medial margin 2 / 7739
14
 (OMIM) Normal clavicles 2 / 7739
15
 (OMIM) Non-ossified talus and calcaneus 2 / 7739
16
 (OMIM) Short, horizontal ribs 4 / 7739
17
 (OMIM) Stillborn or death shortly after birth 3 / 7739
18
 (OMIM) Dwarfism, marked micromelic 3 / 7739
19
 (OMIM) Fetal hydrops 15 / 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 ...