Seckel syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 64
OrphanetNr: 808
OMIM Id: 210600
600546
606744
608664
613676
613823
ICD-10: Q87.1
UMLs: C0265202
MeSH: C537533
MedDRA:
Snomed: 57917004

Prevalence, inheritance and age of onset:

Prevalence: 100 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Microcephalic primordial dwarfism
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000057) Clitoromegaly 30 / 7739
2
 (HPO:0000047) Hypospadias 250 / 7739
3
 (HPO:0000028) Cryptorchidism 347 / 7739
4
 (HPO:0000340) Sloping forehead 86 / 7739
5
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
6
 (HPO:0000237) Small anterior fontanelle 10 / 7739
7
 (HPO:0000448) Prominent nose 56 / 7739
8
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
9
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
10
 (HPO:0000175) Cleft palate 349 / 7739
11
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
12
 (HPO:0000581) Blepharophimosis 197 / 7739
13
 (HPO:0000324) Facial asymmetry 57 / 7739
14
 (HPO:0000689) Dental malocclusion 114 / 7739
15
 (HPO:0001090) Large eyes 20 / 7739
16
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
17
 (HPO:0000347) Micrognathia 426 / 7739
18
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
19
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
20
 (HPO:0000218) High palate 356 / 7739
21
 (HPO:0001363) Craniosynostosis Very frequent [Orphanet] 132 / 7739
22
 (HPO:0000275) Narrow face Very frequent [Orphanet] 76 / 7739
23
 (HPO:0001592) Selective tooth agenesis 16 / 7739
24
 (HPO:0000678) Dental crowding 65 / 7739
25
 (HPO:0000486) Strabismus 576 / 7739
26
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
27
 (HPO:0000369) Low-set ears 372 / 7739
28
 (HPO:0000377) Abnormality of the pinna 111 / 7739
29
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
30
 (HPO:0001250) Seizures 1245 / 7739
31
 (HPO:0000752) Hyperactivity 140 / 7739
32
 (HPO:0001249) Intellectual disability 1089 / 7739
33
 (HPO:0001883) Talipes 12 / 7739
34
 (HPO:0000878) 11 pairs of ribs 19 / 7739
35
 (HPO:0002827) Hip dislocation 94 / 7739
36
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
37
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
38
 (HPO:0010579) Cone-shaped epiphysis Frequent [Orphanet] 54 / 7739
39
 (HPO:0003083) Dislocated radial head 35 / 7739
40
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
41
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
42
 (HPO:0002987) Elbow flexion contracture 64 / 7739
43
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
44
 (HPO:0006434) Hypoplasia of proximal radius 3 / 7739
45
 (HPO:0000954) Single transverse palmar crease 162 / 7739
46
 (HPO:0001763) Pes planus 176 / 7739
47
 (HPO:0006143) Abnormal finger flexion creases 4 / 7739
48
 (HPO:0010583) Ivory epiphyses 4 / 7739
49
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
50
 (HPO:0006442) Hypoplasia of proximal fibula 2 / 7739
51
 (HPO:0001852) Sandal gap Very frequent [Orphanet] 63 / 7739
52
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
53
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
54
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
55
 (HPO:0003508) Proportionate short stature 12 / 7739
56
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
57
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
58
 (HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
59
 (HPO:0001876) Pancytopenia 89 / 7739
60
 (HPO:0001302) Pachygyria 60 / 7739
61
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
62
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
63
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
64
 (HPO:0007048) Large basal ganglia 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: