Bowed tibiae - radial anomalies - osteopenia - fractures

General Information (adopted from Orphanet):

Synonyms, Signs: Chitty-Hall-Webb syndrome
Number of Symptoms 15
OrphanetNr: 3331
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with decreased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000691) Microdontia Very frequent [Orphanet] 104 / 7739
2
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
3
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
4
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
5
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
6
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
7
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
8
 (HPO:0001177) Preaxial hand polydactyly Frequent [Orphanet] 59 / 7739
9
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
10
 (HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
11
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
12
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
13
 (HPO:0009775) Amniotic constriction ring Occasional [Orphanet] 21 / 7739
14
 (HPO:0001199) Triphalangeal thumb Frequent [Orphanet] 56 / 7739
15
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: