Isolated Klippel-Feil syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Klippel-Feil malformation
Klippel-Feil sequence
Congenital cervical vertebral fusion
Congenital fused cervical segments
Number of Symptoms 36
OrphanetNr: 2345
OMIM Id: 118100
214300
613702
ICD-10: Q76.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Dysostosis with predominant vertebral and costal involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000122) Unilateral renal agenesis 7/45 [HPO:probinson] 24 / 7739
2
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
3
 (HPO:0000466) Limited neck range of motion hallmark [HPO:probinson] 5 / 7739
4
 (HPO:0000175) Cleft palate rare [HPO:probinson] 349 / 7739
5
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
6
 (HPO:0005988) Congenital muscular torticollis Frequent [Orphanet] 20% [HPO:probinson] 4436358 IBIS 11 / 7739
7
 (HPO:0000465) Webbed neck Very frequent [Orphanet] 20% [HPO:probinson] 4436358 IBIS 81 / 7739
8
 (HPO:0011331) Hemifacial atrophy Very frequent [Orphanet] 79 / 7739
9
 (HPO:0002162) Low posterior hairline Very frequent [Orphanet] typical [HPO:probinson] 88 / 7739
10
 (HPO:0007291) Posterior fossa cyst occasional [HPO:probinson] 10 / 7739
11
 (HPO:0000470) Short neck Very frequent [Orphanet] hallmark [HPO:probinson] 1739048 IBIS 345 / 7739
12
 (HPO:0000324) Facial asymmetry 20% [HPO:probinson] 57 / 7739
13
 (HPO:0000410) Mixed hearing impairment 5/24 [HPO:probinson] 22 / 7739
14
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
15
 (HPO:0001335) Bimanual synkinesia 9/50 [HPO:probinson] 9 / 7739
16
 (HPO:0001291) Abnormality of the cranial nerves Occasional [Orphanet] 27 / 7739
17
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
18
 (HPO:0002650) Scoliosis Frequent [Orphanet] 30/50 [HPO:probinson] 4436358 IBIS 705 / 7739
19
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
20
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] occasional [HPO:probinson] 146 / 7739
21
 (HPO:0005640) Abnormal vertebral segmentation and fusion hallmark [HPO:probinson] 2 / 7739
22
 (HPO:0005107) Abnormality of the sacrum Occasional [Orphanet] 18 / 7739
23
 (HPO:0003468) Abnormality of the vertebrae Very frequent [Orphanet] 77 / 7739
24
 (HPO:0000912) Sprengel anomaly Frequent [Orphanet] 21/50 [HPO:probinson] 4436358 IBIS 51 / 7739
25
 (HPO:0002414) Spina bifida Occasional [Orphanet] 47 / 7739
26
 (HPO:0004602) Cervical C2/C3 vertebral fusion hallmark [HPO:probinson] 3 / 7739
27
 (HPO:0002813) Abnormality of limb bone morphology occasional [HPO:probinson] 3 / 7739
28
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
29
 (HPO:0001545) Anteriorly placed anus Occasional [Orphanet] 55 / 7739
30
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
31
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
32
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
33
 (HPO:0030680) Abnormality of cardiovascular system morphology 21/505 [HPO:probinson] 355 / 7739
34
 (HPO:0030325) Cervicomedullary schisis 1 / 7739
35
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
36
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: