Syndactyly-polydactyly-ear lobe syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SPEL SYNDROME
Number of Symptoms 13
OrphanetNr: 3259
OMIM Id: 186350
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: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0011265) Cleft earlobe Very frequent [Orphanet] 12 / 7739
2
 (HPO:0001177) Preaxial hand polydactyly 59 / 7739
3
 (HPO:0005767) 1-2 toe complete cutaneous syndactyly 1 / 7739
4
 (HPO:0001841) Preaxial foot polydactyly 24 / 7739
5
 (HPO:0001837) Broad toe 13 / 7739
6
 (HPO:0001162) Postaxial hand polydactyly Frequent [Orphanet] 119 / 7739
7
 (HPO:0001853) Bifid distal phalanx of toe 3 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
 (OMIM) Complete cutaneous syndactyly of toes 1 and 2 1 / 7739
10
 (OMIM) Deep horizontal groove or nodule of earlobes 1 / 7739
11
 (OMIM) Broad/bifid great toe 1 / 7739
12
 (OMIM) Ulnar polydactyly 2 / 7739
13
 (OMIM) Complete, separate, preaxial extra toe 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Goldberg and Pashayan (1976) reported 10 members over 3 generations of a family with a syndrome involving syndactyly, polydactyly, and earlobe malformations. The syndactyly was an unusual complete cutaneous type involving toes 1 and 2. Ulnar polydactyly varied ...