Atelosteogenesis type III

General Information (adopted from Orphanet):

Synonyms, Signs: AOIII
AO3
Number of Symptoms 32
OrphanetNr: 56305
OMIM Id: 108721
ICD-10: Q78.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 25 cases [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Filamin-related bone disorder
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -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
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000175) Cleft palate 349 / 7739
2
 (HPO:0000272) Malar flattening 277 / 7739
3
 (HPO:0002007) Frontal bossing 366 / 7739
4
 (HPO:0005280) Depressed nasal bridge 381 / 7739
5
 (HPO:0011800) Midface retrusion 221 / 7739
6
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
7
 (HPO:0000347) Micrognathia 426 / 7739
8
 (HPO:0000269) Prominent occiput 43 / 7739
9
 (HPO:0000470) Short neck 345 / 7739
10
 (HPO:0006060) Tombstone-shaped proximal phalanges 1 / 7739
11
 (HPO:0003042) Elbow dislocation 89 / 7739
12
 (HPO:0001234) Hitchhiker thumb 5 / 7739
13
 (HPO:0008905) Rhizomelia 85 / 7739
14
 (HPO:0004976) Knee dislocation 6 / 7739
15
 (HPO:0006200) Widened distal phalanges 1 / 7739
16
 (HPO:0001762) Talipes equinovarus 309 / 7739
17
 (HPO:0002947) Cervical kyphosis 6 / 7739
18
 (HPO:0003180) Flat acetabular roof 25 / 7739
19
 (HPO:0004632) Cervical segmentation defect 2 / 7739
20
 (HPO:0002650) Scoliosis 705 / 7739
21
 (HPO:0002982) Tibial bowing 36 / 7739
22
 (HPO:0003440) Horizontal sacrum 5 / 7739
23
 (HPO:0001852) Sandal gap 63 / 7739
24
 (HPO:0002986) Radial bowing 27 / 7739
25
 (OMIM) Club-shaped femora 1 / 7739
26
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
27
 (OMIM) Vertical, block-like ischia 1 / 7739
28
 (OMIM) Rhizomelic shortening 12 / 7739
29
 (OMIM) Hitchhiker halluces 1 / 7739
30
 (OMIM) Rounded iliac bones with shortened sacrosciatic notches 1 / 7739
31
 (OMIM) Club-shaped humeri with early proximal epiphyseal ossification 1 / 7739
32
 (OMIM) Bifid digits 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Stern et al. (1990) described 5 examples of a short-limb dwarfism syndrome with manifestations overlapping those of atelosteogenesis (108720) and otopalatodigital syndrome type II (304120). They presented clinical, radiographic, genetic, and histologic data that demonstrated differences between these ...
Molecular genetics OMIM In 2 unrelated individuals with sporadically occurring AOIII, Krakow et al. (2004) found heterozygosity for point mutations in the FLNB gene (603381) that predicted single-residue substitutions in the N-terminal actin-binding domain of filamin B. One individual with AOIII ...