Oculoosteocutaneous syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: OCULOOSTEOCUTANEOUS SYNDROME
ANODONTIA-HYPOTRICHOSIS SYNDROME
Number of Symptoms 42
OrphanetNr: 2713
OMIM Id: 211370
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000066) Labial hypoplasia 10 / 7739
2
 (HPO:0009743) Distichiasis Very frequent [Orphanet] 9 / 7739
3
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
4
 (HPO:0000653) Sparse eyelashes 58 / 7739
5
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
6
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
7
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
8
 (HPO:0000327) Hypoplasia of the maxilla Very frequent [Orphanet] 129 / 7739
9
 (HPO:0000674) Anodontia 18 / 7739
10
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
11
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
12
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
13
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
14
 (HPO:0007957) Corneal opacity 84 / 7739
15
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
16
 (HPO:0000518) Cataract 454 / 7739
17
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
18
 (HPO:0000369) Low-set ears 372 / 7739
19
 (HPO:0002557) Hypoplastic nipples 33 / 7739
20
 (HPO:0001155) Abnormality of the hand Very frequent [Orphanet] 54 / 7739
21
 (HPO:0009803) Short phalanx of finger 79 / 7739
22
 (HPO:0010743) Short metatarsal 56 / 7739
23
 (HPO:0001760) Abnormality of the foot Very frequent [Orphanet] 96 / 7739
24
 (HPO:0010049) Short metacarpal 99 / 7739
25
 (HPO:0001831) Short toe 52 / 7739
26
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
27
 (HPO:0005720) Shortening of all metacarpals 12 / 7739
28
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
29
 (HPO:0002555) Absent pubic hair 3 / 7739
30
 (HPO:0001022) Albinism Very frequent [Orphanet] 43 / 7739
31
 (HPO:0002221) Absent axillary hair 6 / 7739
32
 (HPO:0001595) Abnormality of the hair Very frequent [Orphanet] 89 / 7739
33
 (HPO:0008070) Sparse hair 94 / 7739
34
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
35
 (OMIM) Tarsal hypoplasia 1 / 7739
36
 (OMIM) Small breast 1 / 7739
37
 (OMIM) Thin eyelashes 1 / 7739
38
 (OMIM) Irregular nystagmus 1 / 7739
39
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
40
 (OMIM) Unpigmented areola 1 / 7739
41
 (OMIM) Albinoidism 1 / 7739
42
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: