Fibrochondrogenesis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 69
OrphanetNr: 2021
OMIM Id: 228520
614524
ICD-10: Q77.7
UMLs: C0265282
MeSH:
MedDRA:
Snomed: 17144009

Prevalence, inheritance and age of onset:

Prevalence: 11 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Mesomelic and rhizo-mesomelic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Type 11 collagen-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
2
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
3
 (HPO:0000272) Malar flattening 277 / 7739
4
 (HPO:0001357) Plagiocephaly Occasional [Orphanet] 106 / 7739
5
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
6
 (HPO:0003196) Short nose 264 / 7739
7
 (HPO:0000175) Cleft palate 349 / 7739
8
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
9
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
10
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
11
 (HPO:0005476) Widely patent sagittal suture 2 / 7739
12
 (HPO:0002007) Frontal bossing 366 / 7739
13
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
14
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
15
 (HPO:0005442) Widely patent coronal suture 3 / 7739
16
 (HPO:0000260) Wide anterior fontanel 55 / 7739
17
 (HPO:0000343) Long philtrum 262 / 7739
18
 (HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
19
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
20
 (HPO:0000485) Megalocornea 26 / 7739
21
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
22
 (HPO:0000369) Low-set ears 372 / 7739
23
 (HPO:0000598) Abnormality of the ear Frequent [Orphanet] 98 / 7739
24
 (HPO:0000377) Abnormality of the pinna 111 / 7739
25
 (HPO:0003026) Short long bone 51 / 7739
26
 (HPO:0003375) Narrow greater sacrosciatic notches 13 / 7739
27
 (HPO:0003175) Hypoplastic ischia 12 / 7739
28
 (HPO:0005257) Thoracic hypoplasia 79 / 7739
29
 (HPO:0008451) Posterior vertebral hypoplasia 2 / 7739
30
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
31
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
32
 (HPO:0000947) Dumbbell-shaped long bone 5 / 7739
33
 (HPO:0000882) Hypoplastic scapulae 28 / 7739
34
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
35
 (HPO:0000773) Short ribs 70 / 7739
36
 (HPO:0000883) Thin ribs 31 / 7739
37
 (HPO:0000922) Posterior rib cupping 6 / 7739
38
 (HPO:0001773) Short foot 86 / 7739
39
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
40
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
41
 (HPO:0000926) Platyspondyly 150 / 7739
42
 (HPO:0001591) Bell-shaped thorax Very frequent [Orphanet] 35 / 7739
43
 (HPO:0012385) Camptodactyly 113 / 7739
44
 (HPO:0000912) Sprengel anomaly Frequent [Orphanet] 51 / 7739
45
 (HPO:0003027) Mesomelia Occasional [Orphanet] 58 / 7739
46
 (HPO:0003038) Fibular hypoplasia 30 / 7739
47
 (HPO:0000907) Anterior rib cupping 12 / 7739
48
 (HPO:0200055) Small hand 71 / 7739
49
 (HPO:0005622) Broad long bones 8 / 7739
50
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
51
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
52
 (HPO:0006645) Thin clavicles 4 / 7739
53
 (HPO:0000890) Long clavicles 13 / 7739
54
 (HPO:0008905) Rhizomelia 85 / 7739
55
 (HPO:0100865) Broad ischia 4 / 7739
56
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
57
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
58
 (HPO:0009473) Joint contracture of the hand 84 / 7739
59
 (HPO:0001789) Hydrops fetalis 63 / 7739
60
 (HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
61
 (HPO:0001538) Protuberant abdomen 36 / 7739
62
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
63
 (HPO:0001800) Hypoplastic toenails 74 / 7739
64
 (HPO:0001804) Hypoplastic fingernail Frequent [Orphanet] 62 / 7739
65
 (HPO:0001655) Patent foramen ovale 31 / 7739
66
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
67
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
68
 (HPO:0003826) Stillbirth 40 / 7739
69
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: