Cleidorhizomelic syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Wallis-Zieff-Goldblatt syndrome
Rhizomelic shortness with clavicular defect
Number of Symptoms 14
OrphanetNr: 1453
OMIM Id: 119650
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Mesomelic and rhizo-mesomelic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
2
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
3
 (HPO:0001167) Abnormality of finger Very frequent [Orphanet] 29 / 7739
4
 (HPO:0004220) Short middle phalanx of the 5th finger 17 / 7739
5
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
6
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
7
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
8
 (HPO:0000889) Abnormality of the clavicle 3 / 7739
9
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
10
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
 (OMIM) Abnormal acromioclavicular joints 1 / 7739
13
 (OMIM) Bifid lateral third of clavicles 1 / 7739
14
 (OMIM) Lateral clavicular defects 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: