Eyebrow duplication - syndactyly

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 21
OrphanetNr: 3172
OMIM Id: 227210
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[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:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
2
(HPO:0000527) Long eyelashes 46 / 7739
3
(HPO:0000499) Abnormality of the eyelashes Very frequent [Orphanet] 35 / 7739
4
(HPO:0000534) Abnormality of the eyebrow Very frequent [Orphanet] 39 / 7739
5
(HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
6
(HPO:0000607) Periorbital wrinkles 4 / 7739
7
(HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
8
(HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
9
(HPO:0004691) 2-3 toe syndactyly 50 / 7739
10
(HPO:0010709) 2-4 finger syndactyly 2 / 7739
11
(HPO:0005620) Hypermobility of interphalangeal joints 1 / 7739
12
(HPO:0011930) Hyperextensible skin of chest 1 / 7739
13
(HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
14
(HPO:0007425) Hyperextensible skin of face 1 / 7739
15
(HPO:0009721) Shagreen patch Very frequent [Orphanet] 11 / 7739
16
(OMIM) Partial duplication of eyebrows 1 / 7739
17
(OMIM) Excess forehead hair 1 / 7739
18
(OMIM) Excessively stretchable skin of face and chest 1 / 7739
19
(HPO:0045018) Partial duplication of eyebrows 1 / 7739
20
(OMIM) Congenital fibromata of lips 1 / 7739
21
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Berkenstadt et al. (1988) described partial duplication of the eyebrows with other anomalies in a 7-year-old son of parents related as half sibs. (They were called first cousins; however, they were the offspring of identical twins). The boy ...