Campomelic dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: Campomelic dwarfism
Number of Symptoms 74
OrphanetNr: 140
OMIM Id: 114290
211990
602196
ICD-10: Q87.1
UMLs: C1861922
MeSH: D055036
MedDRA:
Snomed: 74928006

Prevalence, inheritance and age of onset:

Prevalence: 0.33 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Bent bone dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Syndrome with 46,XY disorder of sex development
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease
Syndrome with disorder of sex development of gynecological interest
 -Rare genetic disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0012245) Sex reversal 13 / 7739
2
 (HPO:0000126) Hydronephrosis 119 / 7739
3
 (HPO:0000062) Ambiguous genitalia Frequent [Orphanet] 74 / 7739
4
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
5
 (HPO:0000037) Male pseudohermaphroditism Frequent [Orphanet] 25 / 7739
6
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
7
 (HPO:0000457) Depressed nasal ridge 85 / 7739
8
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
9
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
10
 (HPO:0000581) Blepharophimosis 197 / 7739
11
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
12
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
13
 (HPO:0005280) Depressed nasal bridge Occasional [Orphanet] 381 / 7739
14
 (HPO:0000175) Cleft palate 349 / 7739
15
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
16
 (HPO:0000260) Wide anterior fontanel 55 / 7739
17
 (HPO:0000348) High forehead 157 / 7739
18
 (HPO:0000347) Micrognathia 426 / 7739
19
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
20
 (HPO:0000274) Small face 18 / 7739
21
 (HPO:0004408) Abnormality of the sense of smell Occasional [Orphanet] 28 / 7739
22
 (HPO:0000369) Low-set ears 372 / 7739
23
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
24
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
25
 (HPO:0011910) Shortening of all phalanges of fingers 2 / 7739
26
 (HPO:0006390) Anterior tibial bowing 2 / 7739
27
 (HPO:0005035) Shortening of all phalanges of the toes 1 / 7739
28
 (HPO:0000878) 11 pairs of ribs 19 / 7739
29
 (HPO:0004599) Absent or minimally ossified vertebral bodies Very frequent [Orphanet] 18 / 7739
30
 (HPO:0009115) Aplasia/hypoplasia involving the skeleton Very frequent [Orphanet] 7 / 7739
31
 (HPO:0000912) Sprengel anomaly Very frequent [Orphanet] 51 / 7739
32
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
33
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
34
 (HPO:0000921) Missing ribs Very frequent [Orphanet] 62 / 7739
35
 (HPO:0005257) Thoracic hypoplasia 79 / 7739
36
 (HPO:0008477) Poorly ossified cervical vertebrae 1 / 7739
37
 (HPO:0008434) Hypoplastic cervical vertebrae 4 / 7739
38
 (HPO:0002980) Femoral bowing 36 / 7739
39
 (HPO:0002991) Abnormality of the fibula Very frequent [Orphanet] 49 / 7739
40
 (HPO:0006628) Absent sternal ossification 6 / 7739
41
 (HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
42
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
43
 (HPO:0000882) Hypoplastic scapulae 28 / 7739
44
 (HPO:0002827) Hip dislocation 94 / 7739
45
 (HPO:0003038) Fibular hypoplasia 30 / 7739
46
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
47
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
48
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
49
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
50
 (HPO:0002751) Kyphoscoliosis 131 / 7739
51
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
52
 (HPO:0000883) Thin ribs 31 / 7739
53
 (HPO:0002823) Abnormality of the femur Frequent [Orphanet] 61 / 7739
54
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
55
 (HPO:0001561) Polyhydramnios 191 / 7739
56
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
57
 (HPO:0001508) Failure to thrive 454 / 7739
58
 (HPO:0008921) Neonatal short-limb short stature 12 / 7739
59
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
60
 (HPO:0200040) Epidermoid cyst Frequent [Orphanet] 35 / 7739
61
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
62
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
63
 (HPO:0001601) Laryngomalacia Very frequent [Orphanet] 61 / 7739
64
 (HPO:0002786) Tracheobronchomalacia 4 / 7739
65
 (HPO:0002098) Respiratory distress 75 / 7739
66
 (HPO:0002104) Apnea 106 / 7739
67
 (HPO:0002779) Tracheomalacia Very frequent [Orphanet] 26 / 7739
68
 (HPO:0001252) Muscular hypotonia 990 / 7739
69
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
70
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
71
 (HPO:0012745) Short palpebral fissure 47 / 7739
72
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
73
 (HPO:0000238) Hydrocephalus 278 / 7739
74
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: