FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: FATCO SYNDROME
Number of Symptoms 12
OrphanetNr:
OMIM Id: 246570
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001849) Foot oligodactyly 9 / 7739
2
(HPO:0001155) Abnormality of the hand 54 / 7739
3
(HPO:0001180) Hand oligodactyly 17 / 7739
4
(HPO:0001159) Syndactyly 140 / 7739
5
(HPO:0006436) Shortening of the tibia 2 / 7739
6
(HPO:0002982) Tibial bowing 36 / 7739
7
(HPO:0002990) Fibular aplasia 16 / 7739
8
(OMIM) Hypoplasia of the fibula 1 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(OMIM) Oligosyndactyly 2 / 7739
11
(OMIM) Absence of the fibula 1 / 7739
12
(HPO:0003812) Phenotypic variability 129 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) FATCO syndrome comprises fibular aplasia, tibial campomelia, and oligosyndactyly (Courtens et al., 2005).

See also ectrodactyly (split-hand/foot malformation) associated with fibular hypoplasia/aplasia (113310).
Clinical Description OMIM Hecht and Scott (1981) described half sibs, a boy and a girl, with limb anomalies. The older boy had a more severe phenotype, with terminal transverse defects involving all 4 limbs and congenital heart malformation. He was born ...