FIBROCHONDROGENESIS 2

General Information (adopted from Orphanet):

Synonyms, Signs: FBCG2
Number of Symptoms 24
OrphanetNr:
OMIM Id: 614524
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant 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:0000272) Malar flattening 277 / 7739
2
(HPO:0011800) Midface retrusion 221 / 7739
3
(HPO:0000347) Micrognathia 426 / 7739
4
(HPO:0003196) Short nose 264 / 7739
5
(HPO:0000463) Anteverted nares 305 / 7739
6
(HPO:0003175) Hypoplastic ischia 12 / 7739
7
(HPO:0005257) Thoracic hypoplasia 79 / 7739
8
(HPO:0000773) Short ribs 70 / 7739
9
(HPO:0001591) Bell-shaped thorax 35 / 7739
10
(HPO:0003016) Metaphyseal widening 41 / 7739
11
(HPO:0000926) Platyspondyly 150 / 7739
12
(HPO:0000946) Hypoplastic ilia 21 / 7739
13
(HPO:0003173) Hypoplastic pubic bone 8 / 7739
14
(HPO:0001538) Protuberant abdomen 36 / 7739
15
(OMIM) Metaphyseal cupping of ribs 1 / 7739
16
(OMIM) Relatively large skull 1 / 7739
17
(OMIM) Delayed ossification of pubis 1 / 7739
18
(OMIM) Respiratory compromise due to small size of thorax 1 / 7739
19
(OMIM) Shortening of the long bones 1 / 7739
20
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
(OMIM) Delayed ossification of the cervical vertebral bodies (in some patients) 1 / 7739
22
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
(OMIM) Delayed ossification of ischia 1 / 7739
24
(OMIM) Posteriorly narrowed vertebral bodies 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched ...
Clinical Description OMIM Tompson et al. (2012) reported 2 unrelated probands with fibrochondrogenesis who died at birth. The first patient was born of first-cousin parents of Saudi Arabian descent; the couple previously had an affected child and 2 unaffected children. The ...
Molecular genetics OMIM In a deceased infant with fibrochondrogenesis, who was born of consanguineous parents and known to be negative for mutation in the COL11A1 gene (120280), Tompson et al. (2012) performed whole-genome SNP genotyping and identified a 26.7-Mb block of ...