FIBROCHONDROGENESIS 1

General Information (adopted from Orphanet):

Synonyms, Signs: FBCG1
Number of Symptoms 44
OrphanetNr:
OMIM Id: 228520
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005280) Depressed nasal bridge 381 / 7739
2
(HPO:0005442) Widely patent coronal suture 3 / 7739
3
(HPO:0002007) Frontal bossing 366 / 7739
4
(HPO:0000175) Cleft palate 349 / 7739
5
(HPO:0000160) Narrow mouth 188 / 7739
6
(HPO:0000260) Wide anterior fontanel 55 / 7739
7
(HPO:0003196) Short nose 264 / 7739
8
(HPO:0000470) Short neck 345 / 7739
9
(HPO:0000343) Long philtrum 262 / 7739
10
(HPO:0005476) Widely patent sagittal suture 2 / 7739
11
(HPO:0000463) Anteverted nares 305 / 7739
12
(HPO:0000377) Abnormality of the pinna 111 / 7739
13
(HPO:0000369) Low-set ears 372 / 7739
14
(HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
15
(HPO:0200055) Small hand 71 / 7739
16
(HPO:0012385) Camptodactyly 113 / 7739
17
(HPO:0001773) Short foot 86 / 7739
18
(HPO:0000882) Hypoplastic scapulae 28 / 7739
19
(HPO:0008451) Posterior vertebral hypoplasia 2 / 7739
20
(HPO:0003038) Fibular hypoplasia 30 / 7739
21
(HPO:0008905) Rhizomelia 85 / 7739
22
(HPO:0005257) Thoracic hypoplasia 79 / 7739
23
(HPO:0000922) Posterior rib cupping 6 / 7739
24
(HPO:0000926) Platyspondyly 150 / 7739
25
(HPO:0003375) Narrow greater sacrosciatic notches 13 / 7739
26
(HPO:0001538) Protuberant abdomen 36 / 7739
27
(HPO:0001539) Omphalocele 102 / 7739
28
(HPO:0004322) Short stature 1232 / 7739
29
(HPO:0001804) Hypoplastic fingernail 62 / 7739
30
(HPO:0001800) Hypoplastic toenails 74 / 7739
31
(HPO:0001655) Patent foramen ovale 31 / 7739
32
(HPO:0000969) Edema 117 / 7739
33
(OMIM) Round, flat face 1 / 7739
34
(OMIM) Broad, hypoplastic ischia 1 / 7739
35
(OMIM) Long, thin clavicles 2 / 7739
36
(OMIM) Short, thin ribs 4 / 7739
37
(OMIM) Protuberant eyes 3 / 7739
38
(OMIM) Irregular, flattened acetabula with medial spikes 1 / 7739
39
(OMIM) Ovoid ilia 1 / 7739
40
(OMIM) Short, broad dumbbell-shaped tubular bones with irregular metaphyses 1 / 7739
41
(OMIM) Large cornea 4 / 7739
42
(OMIM) Normal head size 1 / 7739
43
(OMIM) Disorganized growth plate cartilage 1 / 7739
44
(OMIM) Sagittal cleft 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped ...
Clinical Description OMIM Fibrochondrogenesis is a rare, often neonatally lethal, rhizomelic chondrodysplasia distinguished from other forms of lethal dwarfism by broad long-bone metaphyses, pear-shaped vertebral bodies, and characteristic microscopic changes of cartilage: unique interwoven fibrous septa and fibroblastic dysplasia of chondrocytes. ...
Molecular genetics OMIM Tompson et al. (2010) sequenced the COL11A1 gene (120280) in 2 unrelated patients with fibrochondrogenesis and demonstrated that each was a compound heterozygote for a loss-of-function mutation on one allele and a mutation predicting substitution for a conserved ...
Population genetics OMIM Among the 1,158,067 live births registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC), Martinez-Frias et al. (1996) encountered a case of fibrochondrogenesis. This was supposedly the eighth reported case. The frequency in this series should be ...