SECKEL SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: BIRD-HEADED DWARFISM
SECKEL-TYPE DWARFISM
NANOCEPHALIC DWARFISM
MICROCEPHALIC PRIMORDIAL DWARFISM I
SCKL1
SCKL
Number of Symptoms 52
OrphanetNr:
OMIM Id: 210600
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000047) Hypospadias 250 / 7739
3
 (HPO:0000057) Clitoromegaly 30 / 7739
4
 (HPO:0000678) Dental crowding 65 / 7739
5
 (HPO:0000237) Small anterior fontanelle 10 / 7739
6
 (HPO:0000581) Blepharophimosis 197 / 7739
7
 (HPO:0000252) Microcephaly 832 / 7739
8
 (HPO:0000340) Sloping forehead 86 / 7739
9
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
10
 (HPO:0000175) Cleft palate 349 / 7739
11
 (HPO:0000218) High palate 356 / 7739
12
 (HPO:0000448) Prominent nose 56 / 7739
13
 (HPO:0000347) Micrognathia 426 / 7739
14
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
15
 (HPO:0000324) Facial asymmetry 57 / 7739
16
 (HPO:0001592) Selective tooth agenesis 16 / 7739
17
 (HPO:0000444) Convex nasal ridge 87 / 7739
18
 (HPO:0000486) Strabismus 576 / 7739
19
 (HPO:0000752) Hyperactivity 140 / 7739
20
 (HPO:0001250) Seizures 1245 / 7739
21
 (HPO:0001249) Intellectual disability 1089 / 7739
22
 (HPO:0006434) Hypoplasia of proximal radius 3 / 7739
23
 (HPO:0010579) Cone-shaped epiphysis 54 / 7739
24
 (HPO:0000954) Single transverse palmar crease 162 / 7739
25
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
26
 (HPO:0002827) Hip dislocation 94 / 7739
27
 (HPO:0001763) Pes planus 176 / 7739
28
 (HPO:0010583) Ivory epiphyses 4 / 7739
29
 (HPO:0001852) Sandal gap 63 / 7739
30
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
31
 (HPO:0006143) Abnormal finger flexion creases 4 / 7739
32
 (HPO:0001883) Talipes 12 / 7739
33
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
34
 (HPO:0006442) Hypoplasia of proximal fibula 2 / 7739
35
 (HPO:0000878) 11 pairs of ribs 19 / 7739
36
 (HPO:0002650) Scoliosis 705 / 7739
37
 (HPO:0003083) Dislocated radial head 35 / 7739
38
 (HPO:0002987) Elbow flexion contracture 64 / 7739
39
 (HPO:0003508) Proportionate short stature 12 / 7739
40
 (HPO:0008897) Postnatal growth retardation 113 / 7739
41
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
42
 (HPO:0001876) Pancytopenia 89 / 7739
43
 (OMIM) Increased sister chromatid exchange 1 / 7739
44
 (OMIM) Arachnoidal cyst 2 / 7739
45
 (OMIM) Absence of earlobe 1 / 7739
46
 (OMIM) Relatively large eyes 1 / 7739
47
 (HPO:0007048) Large basal ganglia 2 / 7739
48
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
49
 (OMIM) Low-set, malformed ears 1 / 7739
50
 (OMIM) Class II malocclusion 1 / 7739
51
 (OMIM) Average birth weight 1540g 1 / 7739
52
 (HPO:0001302) Pachygyria 60 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997).

- Genetic Heterogeneity of Seckel Syndrome

...
Clinical Description OMIM This condition was given the 2 names bird-headed dwarfism and nanocephaly by Virchow. Seckel (1960) produced the definitive publication based on 2 personally observed cases and 13 reliable plus 11 less reliable cases from the literature. In addition ...
Molecular genetics OMIM O'Driscoll et al. (2003) showed that affected individuals in the Pakistani families studied by Goodship et al. (2000) had a mutation in the gene encoding ataxia-telangiectasia and RAD3-related protein (ATR; 601215.0001).