Knobloch syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE
KNO
KNO1
Knobloch-Layer syndrome
Retinal detachment - occipital encephalocele
Number of Symptoms 51
OrphanetNr: 1571
OMIM Id: 267750
ICD-10: Q15.8
UMLs: C1849409
MeSH: C537209
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Vitreoretinal degeneration
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 94 / 7739
2
 (HPO:0000069) Abnormality of the ureter Occasional [Orphanet] 47 / 7739
3
 (HPO:0002084) Encephalocele Very frequent [Orphanet] 70 / 7739
4
 (HPO:0005280) Depressed nasal bridge Occasional [Orphanet] 381 / 7739
5
 (HPO:0002085) Occipital encephalocele 20 / 7739
6
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
7
 (HPO:0011800) Midface retrusion Occasional [Orphanet] 221 / 7739
8
 (HPO:0001362) Calvarial skull defect Very frequent [Orphanet] 22 / 7739
9
 (HPO:0001104) Macular hypoplasia 9 / 7739
10
 (HPO:0008059) Aplasia/Hypoplasia of the macula Very frequent [Orphanet] 21 / 7739
11
 (HPO:0011003) Severe Myopia 31 / 7739
12
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
13
 (HPO:0004327) Abnormality of the vitreous humor Frequent [Orphanet] 14 / 7739
14
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
15
 (HPO:0000541) Retinal detachment Very frequent [Orphanet] 87 / 7739
16
 (HPO:0000667) Phthisis bulbi 4 / 7739
17
 (HPO:0007899) Retinal nonattachment 10 / 7739
18
 (HPO:0000655) Vitreoretinal degeneration 8 / 7739
19
 (HPO:0000585) Band keratopathy 8 / 7739
20
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
21
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
22
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
23
 (HPO:0001083) Ectopia lentis Occasional [Orphanet] 45 / 7739
24
 (HPO:0000519) Congenital cataract 73 / 7739
25
 (HPO:0001251) Ataxia 413 / 7739
26
 (HPO:0001268) Mental deterioration rare [HPO:skoehler] 88 / 7739
27
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
28
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
29
 (HPO:0002021) Pyloric stenosis Occasional [Orphanet] 51 / 7739
30
 (HPO:0001595) Abnormality of the hair Occasional [Orphanet] 89 / 7739
31
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
32
 (HPO:0001651) Dextrocardia Occasional [Orphanet] 38 / 7739
33
 (HPO:0100764) Lymphangioma Occasional [Orphanet] 11 / 7739
34
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
35
 (OMIM) Subependymal heterotopic nodules 1 / 7739
36
 (HPO:0001272) Cerebellar atrophy 197 / 7739
37
 (OMIM) Alopecia at the occipital defect 1 / 7739
38
 (OMIM) Occipital dermal sinus tract 1 / 7739
39
 (HPO:0003812) Phenotypic variability 129 / 7739
40
 (OMIM) Syneresis 1 / 7739
41
 (OMIM) Vitreous attachment at the disc 1 / 7739
42
 (HPO:0002119) Ventriculomegaly 253 / 7739
43
 (OMIM) Peripapillary atrophy 1 / 7739
44
 (OMIM) Cerebellar ataxia, adult-onset 2 / 7739
45
 (OMIM) Persistent fetal hyaloid vasculature 1 / 7739
46
 (HPO:0002059) Cerebral atrophy 171 / 7739
47
 (OMIM) Midline occipital bone defect 1 / 7739
48
 (HPO:0002120) Cerebral cortical atrophy 187 / 7739
49
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739
50
 (HPO:0002126) Polymicrogyria 64 / 7739
51
 (OMIM) Irregular white dots at the vitreoretinal interface 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Knobloch syndrome is an autosomal recessive developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis ...
Clinical Description OMIM Knobloch and Layer (1971) reported a family in which 5 of 10 sibs had high myopia, vitreoretinal degeneration with retinal detachment, and occipital encephalocele. One of the patients also had total anomalous pulmonary venous return (106700). All the ...
Molecular genetics OMIM In all 12 affected members of a Brazilian family with Knobloch syndrome (Passos-Bueno et al., 1994), Sertie et al. (2000) identified a homozygous splice site mutation in the COL18A1 gene (120328.0001).

In the Hungarian brother and ...