Syndactyly type 4

General Information (adopted from Orphanet):

Synonyms, Signs: HAAS TYPE SYNDACTYLY
SDTY4
SD4
polysyndactyly, haas type
Number of Symptoms 24
OrphanetNr: 93405
OMIM Id: 186200
ICD-10: Q70.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
2
 (HPO:0005917) Supernumerary metacarpal bones 1 / 7739
3
 (HPO:0006088) 1-5 finger complete cutaneous syndactyly 1 / 7739
4
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
5
 (HPO:0010708) 1-5 finger syndactyly 18417549 IBIS 1 / 7739
6
 (HPO:0001161) Hand polydactyly Very frequent [Orphanet] 71 / 7739
7
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
8
 (HPO:0010442) Polydactyly 18417549 IBIS 69 / 7739
9
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
10
 (HPO:0001501) 6 metacarpals 2 / 7739
11
 (HPO:0001829) Foot polydactyly Frequent [Orphanet] 41 / 7739
12
 (HPO:0002992) Abnormality of the tibia Frequent [Orphanet] 51 / 7739
13
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
14
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
15
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
 (OMIM) Hexadactyly 2 / 7739
17
 (OMIM) Cup-shaped hand 1 / 7739
18
 (OMIM) Pre- or postaxial polydactyly 1 / 7739
19
 (OMIM) Fused fingernails 2 / 7739
20
 (OMIM) Normal feet (majority of cases) 1 / 7739
21
 (HPO:0001199) Triphalangeal thumb Occasional [Orphanet] 18417549 IBIS 56 / 7739
22
 (OMIM) Separate triphalangeal thumb (in some patients) 1 / 7739
23
 (OMIM) Partial cutaneous 2-3 toe syndactyly 1 / 7739
24
 (OMIM) Separate hypoplastic thumb (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Haas (1940) reported this type of syndactyly in a mother and her 2 children. The syndactyly was complete, affecting the fingers of both hands, and there was polydactyly, with 6 metacarpals and 6 digits. Flexion of the fingers ...
Molecular genetics OMIM In a 5-generation Chinese family diagnosed with type IV syndactyly mapping to chromosome 7q36, Sato et al. (2007) directly sequenced the SHH (600725) and LMBR1 (605522) genes, including the conserved ZPA regulatory sequence (ZRS) within intron 5 of ...