Karsch-Neugebauer syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: KARSCH-NEUGEBAUER SYNDROME
NYSTAGMUS-SPLIT HAND SYNDROME
KNS
Split hand/split foot - nystagmus
Number of Symptoms 16
OrphanetNr: 2329
OMIM Id: 183800
ICD-10: Q87.2
UMLs:
MeSH: C537319
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000488) Retinopathy 75 / 7739
2
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
3
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
4
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 9450888 IBIS 555 / 7739
5
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
6
 (HPO:0006934) Congenital nystagmus 10 / 7739
7
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
8
 (HPO:0100257) Ectrodactyly 27 / 7739
9
 (HPO:0004060) Trident hand Very frequent [Orphanet] 13 / 7739
10
 (HPO:0001839) Split foot Very frequent [Orphanet] 28 / 7739
11
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
12
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
13
 (HPO:0001171) Split hand 72 / 7739
14
 (HPO:0200054) Foot monodactyly 6 / 7739
15
 (HPO:0004058) Hand monodactyly 8 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: