Lethal recessive chondrodysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: Maroteaux-Stanescu-Cousin syndrome
Number of Symptoms 25
OrphanetNr: 1423
OMIM Id:
ICD-10: Q78.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lethal chondrodysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
2
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
3
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
4
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
5
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
6
 (HPO:0000598) Abnormality of the ear Occasional [Orphanet] 98 / 7739
7
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
8
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
9
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
10
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
11
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
12
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
13
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
14
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
15
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
16
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
17
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
18
 (HPO:0002250) Abnormality of the large intestine Occasional [Orphanet] 32 / 7739
19
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
20
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
21
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
22
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
23
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
24
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
25
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: