Autosomal recessive omodysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: OMODYSPLASIA, AUTOSOMAL RECESSIVE
MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS
OMODYSPLASIA, GENERALIZED FORM
OMOD1
Micromelic dysplasia - dislocation of radius
Number of Symptoms 63
OrphanetNr: 93329
OMIM Id: 258315
ICD-10: Q78.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 23 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0009756) Popliteal pterygium 9 / 7739
2
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
3
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
4
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
5
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
6
 (HPO:0001631) Atria septal defect 274 / 7739
7
 (HPO:0001629) Ventricular septal defect 316 / 7739
8
 (HPO:0004415) Pulmonary artery stenosis 25 / 7739
9
 (HPO:0011442) Abnormality of central motor function Very frequent [Orphanet] 76 / 7739
10
 (HPO:0002823) Abnormality of the femur Frequent [Orphanet] 61 / 7739
11
 (HPO:0012107) Increased fibular diameter 1 / 7739
12
 (HPO:0003066) Limited knee extension 4 / 7739
13
 (HPO:0005085) Limited knee flexion/extension 1 / 7739
14
 (HPO:0006389) Limited knee flexion 2 / 7739
15
 (HPO:0003038) Fibular hypoplasia 30 / 7739
16
 (HPO:0005736) Short tibia 19 / 7739
17
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
18
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
19
 (HPO:0005050) Anterolateral radial head dislocation 1 / 7739
20
 (HPO:0003042) Elbow dislocation Very frequent [Orphanet] 89 / 7739
21
 (HPO:0001377) Limited elbow extension 38 / 7739
22
 (HPO:0005060) Limited elbow flexion/extension 3 / 7739
23
 (HPO:0006376) Limited elbow flexion 2 / 7739
24
 (HPO:0003063) Abnormality of the humerus Very frequent [Orphanet] 36 / 7739
25
 (HPO:0005025) Hypoplastic distal humeri 3 / 7739
26
 (HPO:0005792) Short humerus 34 / 7739
27
 (HPO:0003027) Mesomelia Frequent [Orphanet] 58 / 7739
28
 (HPO:0008800) Limited hip movement 3 / 7739
29
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
30
 (HPO:0000347) Micrognathia 426 / 7739
31
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
32
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
33
 (HPO:0000470) Short neck 345 / 7739
34
 (HPO:0001059) Pterygium Occasional [Orphanet] 16 / 7739
35
 (HPO:0001060) Axillary pterygia 4 / 7739
36
 (HPO:0001537) Umbilical hernia 206 / 7739
37
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
38
 (HPO:0000028) Cryptorchidism 347 / 7739
39
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
40
 (HPO:0012368) Flat face 106 / 7739
41
 (HPO:0000272) Malar flattening 277 / 7739
42
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
43
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
44
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
45
 (HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
46
 (HPO:0000431) Wide nasal bridge 290 / 7739
47
 (HPO:0000581) Blepharophimosis 197 / 7739
48
 (HPO:0000286) Epicanthus 371 / 7739
49
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
50
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
51
 (HPO:0001028) Hemangioma 23 / 7739
52
 (HPO:0001048) Cavernous hemangioma 28 / 7739
53
 (HPO:0010880) Increased nuchal translucency Occasional [Orphanet] 13 / 7739
54
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
55
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
56
 (OMIM) Hypoplastic everted lateral condyle 1 / 7739
57
 (OMIM) Limited hip motion 1 / 7739
58
 (OMIM) Proximal club shaped femurs 1 / 7739
59
 (OMIM) Radioulnar diastasis 2 / 7739
60
 (OMIM) Short, thick fibulae 1 / 7739
61
 (OMIM) Short, thick tibiae 1 / 7739
62
 (OMIM) Small pterygia (axillary, popliteal) 1 / 7739
63
 (OMIM) Thin vermilion 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, ...
Clinical Description OMIM Borochowitz et al. (1991) described 2 pairs of sibs, offspring of consanguineous couples from an Arabic-Moslem kindred, who presented at birth with severe short-limb dwarfism and distinct facial and radiologic appearance similar to that of patients 4 and ...
Molecular genetics OMIM Based on the putative function of GPC6 as a coreceptor for growth factors involved in cellular growth control and differentiation during development, Campos-Xavier et al. (2009) screened this gene for mutations in affected members of 5 families segregating ...