Fibular aplasia - ectrodactyly

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr: 1118
OMIM Id: 113310
ICD-10: Q73.8
UMLs: C1862100
MeSH: C537930
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 50 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Dysostosis with combined reduction defects of upper and lower limbs
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0002990) Fibular aplasia 16 / 7739
2
(HPO:0002997) Abnormality of the ulna Frequent [Orphanet] 75 / 7739
3
(HPO:0009803) Short phalanx of finger 79 / 7739
4
(HPO:0001839) Split foot 28 / 7739
5
(HPO:0002991) Abnormality of the fibula Frequent [Orphanet] 49 / 7739
6
(HPO:0006492) Aplasia/Hypoplasia of the fibula 3 / 7739
7
(HPO:0001156) Brachydactyly syndrome 180 / 7739
8
(HPO:0009380) Aplasia of the fingers Frequent [Orphanet] 51 / 7739
9
(HPO:0001622) Premature birth Very frequent [Orphanet] 100 / 7739
10
(OMIM) Ectrodactyly of feet 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Ectrodactyly (split-hand/foot malformation) associated with fibular hypoplasia/aplasia is a rare disorder that appears to be inherited in an autosomal dominant fashion with reduced penetrance and variable expression (Evans et al., 2002).

A form of fibular hypoplasia/aplasia ...

Clinical Description OMIM Graham and Badgley (1955) described a large Michigan family with split-hand malformation occurring in 6 individuals over 2 generations, 2 of whom also had ulnar and fibular anomalies. One was a 3-month-old girl, born of a mother with ...