Osteocraniostenosis

General Information (adopted from Orphanet):

Synonyms, Signs: HABRODYSPLASIA
OSTEOCRANIOSTENOSIS
SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES
GCLEB
Gracile bone dysplasia
osteocraniosplenic syndrome
Number of Symptoms 87
OrphanetNr: 2763
OMIM Id: 602361
ICD-10: Q78.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Slender bone dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
2
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
3
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
4
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
5
 (HPO:0000568) Microphthalmia 183 / 7739
6
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
7
 (HPO:0000239) Large fontanelles Occasional [Orphanet] 135 / 7739
8
 (HPO:0000581) Blepharophimosis Occasional [Orphanet] 197 / 7739
9
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
10
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
11
 (HPO:0004331) Decreased skull ossification Very frequent [Orphanet] 31 / 7739
12
 (HPO:0009924) Aplasia/Hypoplasia involving the nose Occasional [Orphanet] 18 / 7739
13
 (HPO:0011220) Prominent forehead 137 / 7739
14
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
15
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
16
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
17
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
18
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Occasional [Orphanet] 117 / 7739
19
 (HPO:0002676) Cloverleaf skull Frequent [Orphanet] 14 / 7739
20
 (HPO:0010804) Tented upper lip vermilion Very frequent [Orphanet] 47 / 7739
21
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
22
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
23
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
24
 (HPO:0000601) Hypotelorism Occasional [Orphanet] 83 / 7739
25
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
26
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
27
 (HPO:0010296) Ankyloglossia 11 / 7739
28
 (HPO:0000592) Blue sclerae Occasional [Orphanet] 85 / 7739
29
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
30
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
31
 (HPO:0000526) Aniridia 12 / 7739
32
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
33
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
34
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
35
 (HPO:0011039) Abnormality of the helix Frequent [Orphanet] 33 / 7739
36
 (HPO:0001250) Seizures 1245 / 7739
37
 (HPO:0001263) Global developmental delay 853 / 7739
38
 (HPO:0001838) Rocker bottom foot Occasional [Orphanet] 85 / 7739
39
 (HPO:0003100) Slender long bone Very frequent [Orphanet] 23684011 IBIS 45 / 7739
40
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
41
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
42
 (HPO:0009882) Short distal phalanx of finger Frequent [Orphanet] 125 / 7739
43
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
44
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
45
 (HPO:0001591) Bell-shaped thorax Frequent [Orphanet] 35 / 7739
46
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Frequent [Orphanet] 69 / 7739
47
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
48
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
49
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
50
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
51
 (HPO:0001182) Tapered finger Frequent [Orphanet] 93 / 7739
52
 (HPO:0000926) Platyspondyly Frequent [Orphanet] 150 / 7739
53
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
54
 (HPO:0003015) Flared metaphysis 44 / 7739
55
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
56
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
57
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
58
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
59
 (HPO:0001562) Oligohydramnios Occasional [Orphanet] 75 / 7739
60
 (HPO:0006270) Hypoplastic spleen 4 / 7739
61
 (HPO:0001746) Asplenia rare [HPO:skoehler] 19 / 7739
62
 (HPO:0001541) Ascites 94 / 7739
63
 (HPO:0001743) Abnormality of the spleen Very frequent [Orphanet] 37 / 7739
64
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
65
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
66
 (HPO:0001525) Severe failure to thrive 13 / 7739
67
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
68
 (HPO:0001508) Failure to thrive 454 / 7739
69
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
70
 (HPO:0002901) Hypocalcemia 56 / 7739
71
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
72
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Frequent [Orphanet] 79 / 7739
73
 (HPO:0010515) Aplasia/Hypoplasia of the thymus Frequent [Orphanet] 17 / 7739
74
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
75
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
76
 (MedDRA:10072883) Brachydactyly 153 / 7739
77
 (HPO:0000238) Hydrocephalus 278 / 7739
78
 (OMIM) Obliteration of medullary cavity seen on radiography 1 / 7739
79
 (OMIM) Micromelic short limbs 1 / 7739
80
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
81
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
82
 (OMIM) Hypoplastic cranial bones 1 / 7739
83
 (OMIM) Bones dense but thin 1 / 7739
84
 (OMIM) Thin ribs and clavicles 1 / 7739
85
 (OMIM) Cloverleaf-shaped skull 1 / 7739
86
 (OMIM) Long bone fractures prenatally 1 / 7739
87
 (OMIM) Decreased mineralization of skull (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Gracile bone dysplasia is a perinatally lethal condition characterized by gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia (summary by Unger et al., 2013).
Clinical Description OMIM Maroteaux et al. (1988) reported a condition characterized by thin, brittle bones and perinatal death. Verloes et al. (1994) described a similar entity on the basis of 3 unrelated fetuses and a reevaluation of some patients in the ...
Molecular genetics OMIM In 5 patients with gracile bone dysplasia and 5 patients with autosomal dominant Kenny-Caffey syndrome (KCS2; 127000), Unger et al. (2013) identified heterozygosity for 6 mutations in the FAM111A gene (615292.0001-615292.0006, respectively). In the 7 families in which ...