SECOND METATARSAL-METACARPAL SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 269630
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000926) Platyspondyly 150 / 7739
2
(HPO:0005916) Abnormal metacarpal morphology 1 / 7739
3
(HPO:0100266) Synostosis of carpals/tarsals 4 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Metacarpal and metatarsal asymmetry 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Christian et al. (1975) described a mother and daughter with a syndrome of metacarpal and metatarsal asymmetry, platyspondyly, carpal and tarsal fusions, syndactyly, articular dysplasia, and platyspondyly. The most striking finding was asymmetry in length of the second ...