Craniosynostosis, Philadelphia type

General Information (adopted from Orphanet):

Synonyms, Signs: ZYGODACTYLY CRANIOSYNOSTOSIS, PHILADELPHIA TYPE, INCLUDED
SYNDACTYLY, TYPE I
SD1
SDTY1
Number of Symptoms 12
OrphanetNr: 1527
OMIM Id: 185900
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[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
Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0004442) Sagittal craniosynostosis rare [HPO:skoehler] 16 / 7739
2
(HPO:0001363) Craniosynostosis Very frequent [Orphanet] 132 / 7739
3
(HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
4
(HPO:0004691) 2-3 toe syndactyly 50 / 7739
5
(HPO:0006097) 3-4 finger syndactyly 7 / 7739
6
(HPO:0001204) Distal symphalangism of hands 13 / 7739
7
(HPO:0012905) Euryblepharon Very frequent [Orphanet] 12 / 7739
8
(OMIM) Cutaneous syndactyly of toes, usually 2nd and 3rd toes 1 / 7739
9
(OMIM) Cutaneous syndactyly of fingers, usually 3rd and 4th fingers 1 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(OMIM) No bony syndactyly 1 / 7739
12
(OMIM) Acrocephalosyndactyly (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lueken (1938) reported syndactyly I in 18 males and 29 females of 5 generations illustrating the various degrees of expressivity of the same gene. The author stated that there were no other symptoms of degeneration or malformation in ...
Molecular genetics OMIM In a large German family with 77 affected members segregating autosomal dominant syndactyly over 8 generations, originally reported by Lueken (1938), Klopocki et al. (2011) performed array CGH and identified a 59-kb microduplication at the IHH (600726) locus ...