Otopalatodigital syndrome type 1

General Information (adopted from Orphanet):

Synonyms, Signs: OPD I SYNDROME
FRONTOOTOPALATODIGITAL OSTEODYSPLASIA, INCLUDED
OPD SYNDROME 1 OTOPALATODIGITAL SPECTRUM DISORDER, INCLUDED
OPD1
Number of Symptoms 77
OrphanetNr: 90650
OMIM Id: 311300
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Otopalatodigital syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare neurologic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
(HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
2
(HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
3
(HPO:0000160) Narrow mouth 188 / 7739
4
(HPO:0001571) Multiple impacted teeth 5 / 7739
5
(HPO:0002007) Frontal bossing 366 / 7739
6
(HPO:0000431) Wide nasal bridge 290 / 7739
7
(HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
8
(HPO:0001592) Selective tooth agenesis 16 / 7739
9
(HPO:0000336) Prominent supraorbital ridges Very frequent [Orphanet] 45 / 7739
10
(HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
11
(HPO:0002737) Thick skull base 3 / 7739
12
(HPO:0002688) Absent frontal sinuses 12 / 7739
13
(HPO:0012368) Flat face 106 / 7739
14
(HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
15
(HPO:0000269) Prominent occiput 43 / 7739
16
(HPO:0000175) Cleft palate 349 / 7739
17
(HPO:0009119) Aplasia/Hypoplasia of the frontal sinuses Frequent [Orphanet] 6 / 7739
18
(HPO:0000272) Malar flattening 277 / 7739
19
(HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
20
(HPO:0004437) Cranial hyperostosis Frequent [Orphanet] 55 / 7739
21
(HPO:0003196) Short nose 264 / 7739
22
(HPO:0000405) Conductive hearing impairment 164 / 7739
23
(HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
24
(HPO:0001256) Intellectual disability, mild 141 / 7739
25
(HPO:0001852) Sandal gap Very frequent [Orphanet] 63 / 7739
26
(HPO:0010055) Broad hallux 56 / 7739
27
(HPO:0001770) Toe syndactyly 149 / 7739
28
(HPO:0009623) Proximal placement of thumb Frequent [Orphanet] 50 / 7739
29
(HPO:0002673) Coxa valga 57 / 7739
30
(HPO:0001850) Abnormality of the tarsal bones Occasional [Orphanet] 40 / 7739
31
(HPO:0010047) Short 5th metacarpal 8 / 7739
32
(HPO:0001782) Bulbous tips of toes 2 / 7739
33
(HPO:0002650) Scoliosis 705 / 7739
34
(HPO:0008089) Abnormality of the fifth metatarsal bone 1 / 7739
35
(HPO:0002827) Hip dislocation 94 / 7739
36
(HPO:0008127) Bipartite calcaneus 4 / 7739
37
(HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
38
(HPO:0010109) Short hallux Very frequent [Orphanet] 27 / 7739
39
(HPO:0000767) Pectus excavatum 244 / 7739
40
(HPO:0010041) Short 3rd metacarpal 5 / 7739
41
(HPO:0009882) Short distal phalanx of finger Frequent [Orphanet] 125 / 7739
42
(HPO:0009601) Aplasia/Hypoplasia of the thumb Frequent [Orphanet] 80 / 7739
43
(HPO:0005048) Synostosis of carpal bones Occasional [Orphanet] 39 / 7739
44
(HPO:0001241) Capitate-hamate fusion 6 / 7739
45
(HPO:0009642) Broad distal phalanx of the thumb 4 / 7739
46
(HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
47
(HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
48
(HPO:0006389) Limited knee flexion 2 / 7739
49
(HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
50
(HPO:0006487) Bowing of the long bones Frequent [Orphanet] 95 / 7739
51
(HPO:0005090) Lateral femoral bowing 2 / 7739
52
(HPO:0004232) Accessory carpal bones 2 / 7739
53
(HPO:0010044) Short 4th metacarpal 14 / 7739
54
(HPO:0003083) Dislocated radial head 35 / 7739
55
(HPO:0001377) Limited elbow extension 38 / 7739
56
(HPO:0003468) Abnormality of the vertebrae Occasional [Orphanet] 77 / 7739
57
(HPO:0011001) Increased bone mineral density Frequent [Orphanet] 78 / 7739
58
(HPO:0001539) Omphalocele 102 / 7739
59
(HPO:0004322) Short stature 1232 / 7739
60
(HPO:0008404) Nail dystrophy 89 / 7739
61
(HPO:0002164) Nail dysplasia 82 / 7739
62
(OMIM) Thick frontal bone 1 / 7739
63
(OMIM) Dense middle-ear ossicles 1 / 7739
64
(OMIM) Steep clivus 1 / 7739
65
(OMIM) Small pedicles 1 / 7739
66
(OMIM) Short third, fourth, fifth metacarpals 1 / 7739
67
(OMIM) 'Tree-frog' feet 2 / 7739
68
(OMIM) Short square fingernails 1 / 7739
69
(HPO:0001423) X-linked dominant inheritance 69 / 7739
70
(OMIM) Anomalous fifth metatarsal 1 / 7739
71
(OMIM) Short square nails 1 / 7739
72
(OMIM) Small iliac crests 1 / 7739
73
(OMIM) Absent sphenoid sinuses 1 / 7739
74
(OMIM) Short, broad halluces 2 / 7739
75
(OMIM) Flat acetabulum 1 / 7739
76
(OMIM) Short, broad distal phalanges, especially thumbs 1 / 7739
77
(OMIM) Mild, lateral femoral bowing 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Otopalatodigital syndrome-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD; 305620), otopalatodigital syndrome-2 (OPD2; 304120), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum. At the ...
Clinical Description OMIM Dudding et al. (1967) described 3 male sibs with conduction deafness, cleft palate, characteristic facies, and a generalized bone dysplasia. A broad nasal root gives the patient a pugilistic appearance. Wide-spacing of the toes creates a resemblance to ...
Molecular genetics OMIM Robertson et al. (2003) demonstrated that OPD1 is caused by gain-of-function mutations in the gene encoding filamin A (FLNA; 300017). They also demonstrated FLNA mutations in OPD2.

In a 26-year-old Mexican female with OPD1, Hidalgo-Bravo et ...