Syndactyly type 8

General Information (adopted from Orphanet):

Synonyms, Signs: MF4
Fusion of metacarpals 4 and 5
Number of Symptoms 6
OrphanetNr: 2498
OMIM Id: 309630
ICD-10: Q70.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
X-linked recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Syndactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0005867) Fused fourth and fifth metacarpals 3 / 7739
2
(HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
3
(OMIM) Shortening of the fifth metacarpal 1 / 7739
4
(OMIM) Fusion of fourth and fifth metacarpals 1 / 7739
5
(OMIM) Syndactyly of toes 2 and 3 2 / 7739
6
(HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Orel (1928) and Holmes et al. (1972) described fusion of the fourth and fifth metacarpals as an X-linked recessive trait. Other reports are more consistent with autosomal dominant inheritance (e.g., Habighorst and Albers, 1965). The families of Lerch ...
Molecular genetics OMIM In a 12-year-old Polish boy with metacarpal 4-5 fusion who was negative for mutation in the NOG (602991), GDF5 (601146), and HOXD13 (142989) genes, Jamsheer et al. (2013) performed whole-exome sequencing and identified a nonsense mutation in the ...