Ophthalmomandibulomelic dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: Pillay syndrome
omm syndrome
Number of Symptoms 38
OrphanetNr: 2741
OMIM Id: 164900
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic corneal dystrophy
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0012478) Temporomandibular joint ankylosis 1 / 7739
2
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
3
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
4
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
5
 (HPO:0000485) Megalocornea Occasional [Orphanet] 26 / 7739
6
 (HPO:0007957) Corneal opacity 84 / 7739
7
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
8
 (HPO:0000618) Blindness 124 / 7739
9
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
10
 (HPO:0005048) Synostosis of carpal bones Very frequent [Orphanet] 39 / 7739
11
 (HPO:0006441) Lateral humeral condyle aplasia 1 / 7739
12
 (HPO:0009827) Amelia 12 / 7739
13
 (HPO:0009829) Phocomelia 20 / 7739
14
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
15
 (HPO:0006169) Decreased mobility 3rd-5th fingers 1 / 7739
16
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
17
 (HPO:0006055) Ulnar deviated club hands 1 / 7739
18
 (HPO:0009700) Finger symphalangism Very frequent [Orphanet] 55 / 7739
19
 (HPO:0002986) Radial bowing 27 / 7739
20
 (HPO:0006439) Radioulnar dislocation 3 / 7739
21
 (HPO:0003042) Elbow dislocation Very frequent [Orphanet] 89 / 7739
22
 (HPO:0003063) Abnormality of the humerus Very frequent [Orphanet] 36 / 7739
23
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
24
 (HPO:0000765) Abnormality of the thorax 64 / 7739
25
 (HPO:0005011) Mesomelic arm shortening 13 / 7739
26
 (HPO:0003038) Fibular hypoplasia 30 / 7739
27
 (HPO:0002974) Radioulnar synostosis Very frequent [Orphanet] 52 / 7739
28
 (HPO:0002983) Micromelia 130 / 7739
29
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
30
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
31
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
32
 (HPO:0002673) Coxa valga 57 / 7739
33
 (OMIM) Obtuse mandibular angle 2 / 7739
34
 (OMIM) Shallow glenoid fossa 2 / 7739
35
 (OMIM) Absent coronoid process 1 / 7739
36
 (OMIM) Proximal radioulnar dislocation 1 / 7739
37
 (OMIM) Absent radial heads 1 / 7739
38
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The designation ophthalmomandibulomelic dysplasia was given by Pillay (1964) to a syndrome he observed in a father, son and daughter. Changes were found in the eye (corneal clouding), in the mandible (temporomandibular fusion, absent coronoid process, obtuse mandibular ...