Acrofacial dysostosis, Weyers type

General Information (adopted from Orphanet):

Synonyms, Signs: ACRODENTAL DYSOSTOSIS OF WEYERS
Weyers acrofacial dysostosis
curry-hall syndrome
Weyers acrodental dysostosis
Number of Symptoms 32
OrphanetNr: 952
OMIM Id: 193530
ICD-10: Q75.4
UMLs:
MeSH: C536695
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acrofacial dysostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Branchial arch or oral-acral syndrome
 -Rare developmental defect during embryogenesis
Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Genetic branchial arch or oral-acral syndrome
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
2
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
3
 (HPO:0000698) Conical tooth 14 / 7739
4
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
5
 (HPO:0000695) Natal tooth Very frequent [Orphanet] 42 / 7739
6
 (HPO:0000601) Hypotelorism 83 / 7739
7
 (HPO:0010285) Oral synechia Very frequent [Orphanet] 31 / 7739
8
 (HPO:0002006) Facial cleft Frequent [Orphanet] 25 / 7739
9
 (HPO:0006315) Single median maxillary incisor 13 / 7739
10
 (HPO:0009738) Abnormality of the antihelix Frequent [Orphanet] 37 / 7739
11
 (HPO:0000395) Prominent antihelix 6 / 7739
12
 (HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] 119 / 7739
13
 (HPO:0004279) Short palm 323 / 7739
14
 (HPO:0009466) Radial deviation of finger Frequent [Orphanet] 101 / 7739
15
 (HPO:0100259) Postaxial polydactyly 85 / 7739
16
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
17
 (HPO:0200055) Small hand Frequent [Orphanet] 71 / 7739
18
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
19
 (HPO:0001830) Postaxial foot polydactyly 37 / 7739
20
 (HPO:0003502) Mild short stature 19 / 7739
21
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
22
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
23
 (HPO:0002164) Nail dysplasia 82 / 7739
24
 (HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
25
 (HPO:0001792) Small nail 55 / 7739
26
 (HPO:0008388) Abnormality of the toenails Very frequent [Orphanet] 28 / 7739
27
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
28
 (OMIM) Multiple frenula 1 / 7739
29
 (OMIM) Brachydactyly, mild 5 / 7739
30
 (OMIM) Cleft of mandibular symphysis (infancy) 1 / 7739
31
 (OMIM) Irregular, small, or absent incisors (permanent teeth) 1 / 7739
32
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Under the designation acrofacial dysostosis, Weyers (1952) described a syndrome of postaxial polydactyly with anomalies of the lower jaw, dentition and oral vestibule, and proposed autosomal dominant inheritance.

Roubicek and Spranger (1984) reported a 4-generation family. ...
Molecular genetics OMIM Ruiz-Perez et al. (2000) determined that a child with EvC, whose father had Weyers acrodental dysostosis (Spranger and Tariverdian, 1995), was a compound heterozygote with a missense mutation in the EVC gene inherited from her father (604831.0006) and ...