Achondrogenesis type 1A

General Information (adopted from Orphanet):

Synonyms, Signs: ACG1A
achondrogenesis, houston-harris type
Number of Symptoms 48
OrphanetNr: 93299
OMIM Id: 200600
ICD-10: Q77.0
UMLs: C0265273
MeSH: C536015
MedDRA:
Snomed: 42725006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[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

Symptom Information: Sort by abundance 

1
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
2
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
3
 (HPO:0005280) Depressed nasal bridge 381 / 7739
4
 (HPO:0004331) Decreased skull ossification 31 / 7739
5
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
6
 (HPO:0000476) Cystic hygroma Occasional [Orphanet] 22 / 7739
7
 (HPO:0005989) Redundant neck skin Very frequent [Orphanet] 40 / 7739
8
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
9
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
10
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
11
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
12
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
13
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
14
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
15
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
16
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
17
 (HPO:0001552) Barrel-shaped chest 31 / 7739
18
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
19
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
20
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Frequent [Orphanet] 69 / 7739
21
 (HPO:0000923) Beaded ribs 5 / 7739
22
 (HPO:0003175) Hypoplastic ischia 12 / 7739
23
 (HPO:0000882) Hypoplastic scapulae 28 / 7739
24
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
25
 (HPO:0004606) Unossified vertebral bodies 4 / 7739
26
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
27
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
28
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
29
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
30
 (HPO:0001789) Hydrops fetalis Very frequent [Orphanet] 63 / 7739
31
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
32
 (HPO:0001538) Protuberant abdomen 36 / 7739
33
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 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) Dwarfism, marked micromelic 3 / 7739
39
 (OMIM) short, wide clavicles 1 / 7739
40
 (OMIM) Cervical and upper thoracic pedicles ossified 1 / 7739
41
 (OMIM) Arched ilium 1 / 7739
42
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
43
 (OMIM) Wedged-shape femur with proximal metaphyseal spike 1 / 7739
44
 (OMIM) Pubic bones ossified 1 / 7739
45
 (OMIM) Unossified feet 1 / 7739
46
 (OMIM) Short broad tibia 1 / 7739
47
 (OMIM) Unossified hands 1 / 7739
48
 (OMIM) Short, fractured ribs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I, as described by Parenti (1936) and by Fraccaro (1952), is a severe ...
Clinical Description OMIM Houston (1970) described 4 sibs with achondrogenesis out of a family of 9. Enchondral ossification was lacking between resting cartilage cells. There is almost certainly heterogeneity within achondrogenesis I.

Wiedemann et al. (1974) pointed out the ...
Molecular genetics OMIM Smits et al. (2010) noted similarities between the skeletal and cellular phenotypes of Trip11 (604505)-null mice and patients with ACG1A, including absence of vertebral-body and skull ossification on radiography, lack of organized columnar zones of proliferating chondrocytes on ...