Triphalangeal thumbs - brachyectrodactyly

General Information (adopted from Orphanet):

Synonyms, Signs: Carnevale-Hernandez-del Castillo syndrome
Number of Symptoms 12
OrphanetNr: 2947
OMIM Id: 190680
ICD-10: Q74.8
UMLs: C1860804
MeSH: C536564
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0005643) Short 3rd toe 2 / 7739
2
(HPO:0001171) Split hand 72 / 7739
3
(HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
4
(HPO:0009380) Aplasia of the fingers Frequent [Orphanet] 51 / 7739
5
(HPO:0009536) Short 2nd finger 6 / 7739
6
(HPO:0001167) Abnormality of finger Frequent [Orphanet] 29 / 7739
7
(HPO:0001839) Split foot 28 / 7739
8
(OMIM) Ectrodactyly of hand 2 / 7739
9
(OMIM) Brachydactyly of index fingers and third toes 1 / 7739
10
(OMIM) Ectrodactyly of feet 3 / 7739
11
(HPO:0001199) Triphalangeal thumb Very frequent [Orphanet] 56 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 2 seemingly unrelated Mexican kindreds, Carnevale et al. (1980) described an unusual pattern of limb malformations: triphalangeal thumbs and brachydactyly of the index fingers and third toes. In both kindreds, some persons had ectrodactyly of the feet ...