Atelosteogenesis type I

General Information (adopted from Orphanet):

Synonyms, Signs: SPONDYLOHUMEROFEMORAL HYPOPLASIA
AOI
AO1
Spondylo-humero-femoral dysplasia
giant cell chondrodysplasia
Number of Symptoms 51
OrphanetNr: 1190
OMIM Id: 108720
ICD-10: Q78.8
UMLs: C0265283
MeSH: C535396
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 12 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Filamin-related bone disorder
 -Rare genetic disease
Pierre Robin syndrome associated with bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Primary bone dysplasia with multiple joint dislocations
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0011800) Midface retrusion 221 / 7739
3
 (HPO:0000272) Malar flattening 277 / 7739
4
 (HPO:0000470) Short neck 345 / 7739
5
 (HPO:0000175) Cleft palate 349 / 7739
6
 (HPO:0005280) Depressed nasal bridge 381 / 7739
7
 (HPO:0000520) Proptosis 192 / 7739
8
 (HPO:0002084) Encephalocele 70 / 7739
9
 (HPO:0003196) Short nose 264 / 7739
10
 (HPO:0000347) Micrognathia 426 / 7739
11
 (HPO:0002007) Frontal bossing 366 / 7739
12
 (HPO:0002990) Fibular aplasia 16 / 7739
13
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
14
 (HPO:0003042) Elbow dislocation 89 / 7739
15
 (HPO:0005792) Short humerus 34 / 7739
16
 (HPO:0008905) Rhizomelia 85 / 7739
17
 (HPO:0002986) Radial bowing 27 / 7739
18
 (HPO:0001762) Talipes equinovarus 309 / 7739
19
 (HPO:0003417) Coronal cleft vertebrae 14 / 7739
20
 (HPO:0003097) Short femur 13 / 7739
21
 (HPO:0006495) Aplasia/Hypoplasia of the ulna 7 / 7739
22
 (HPO:0004592) Thoracic platyspondyly 1 / 7739
23
 (HPO:0006408) Distal tapering femur 1 / 7739
24
 (HPO:0002949) Fused cervical vertebrae 13 / 7739
25
 (HPO:0000774) Narrow chest 167 / 7739
26
 (HPO:0010743) Short metatarsal 56 / 7739
27
 (HPO:0001217) Clubbing 39 / 7739
28
 (HPO:0010049) Short metacarpal 99 / 7739
29
 (HPO:0002982) Tibial bowing 36 / 7739
30
 (HPO:0000878) 11 pairs of ribs 19 / 7739
31
 (HPO:0006406) Club-shaped proximal femur 2 / 7739
32
 (HPO:0001622) Premature birth 100 / 7739
33
 (HPO:0001561) Polyhydramnios 191 / 7739
34
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
35
 (HPO:0001602) Laryngeal stenosis 21 / 7739
36
 (OMIM) Narrow thoracic cage 2 / 7739
37
 (OMIM) Short bowed radii 5 / 7739
38
 (MedDRA:10072883) Brachydactyly 153 / 7739
39
 (OMIM) Giant cells (degenerating chondrocytes) in resting zone of epiphyseal cartilage 1 / 7739
40
 (OMIM) Edematous eyelids 1 / 7739
41
 (OMIM) Short femora with proximal clubbing and distal tapering 1 / 7739
42
 (HPO:0003811) Neonatal death 44 / 7739
43
 (OMIM) Bowed, short tibiae 4 / 7739
44
 (HPO:0003745) Sporadic 131 / 7739
45
 (HPO:0030330) Multinucleated giant chondrocytes in epiphyseal cartilage 1 / 7739
46
 (HPO:0003826) Stillbirth 40 / 7739
47
 (OMIM) Poor ossifications of metacarpal and proximal, middle phalanges 1 / 7739
48
 (OMIM) Well-ossified distal phalanges 1 / 7739
49
 (OMIM) Abnormal segmentation 1 / 7739
50
 (OMIM) Sagittal cleft 3 / 7739
51
 (OMIM) Short humeri with proximal clubbing and distal tapering 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and ...
Molecular genetics OMIM In 3 unrelated individuals with sporadically occurring AOI, Krakow et al. (2004) found heterozygosity for point mutations in FLNB (603381) that predicted single-residue substitutions in the N-terminal actin-binding domain of filamin B. They also found 1 individual with ...