Otopalatodigital syndrome type 2

General Information (adopted from Orphanet):

Synonyms, Signs: OPD II SYNDROME
OPD SYNDROME 2
FACIOPALATOOSSEOUS SYNDROME
CRANIOORODIGITAL SYNDROME
OPD2
FPO
Number of Symptoms 91
OrphanetNr: 90652
OMIM Id: 304120
ICD-10: Q87.0
UMLs: C1844696
MeSH: C538089
MedDRA:
Snomed: 42432003

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:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
2
 (HPO:0000126) Hydronephrosis 119 / 7739
3
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
4
 (HPO:0000028) Cryptorchidism 347 / 7739
5
 (HPO:0000336) Prominent supraorbital ridges Very frequent [Orphanet] 45 / 7739
6
 (HPO:0010559) Vertical clivus 3 / 7739
7
 (HPO:0000260) Wide anterior fontanel 55 / 7739
8
 (HPO:0011800) Midface retrusion 221 / 7739
9
 (HPO:0000162) Glossoptosis Frequent [Orphanet] 26 / 7739
10
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
11
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
12
 (HPO:0005280) Depressed nasal bridge 381 / 7739
13
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
14
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
15
 (HPO:0011220) Prominent forehead 137 / 7739
16
 (HPO:0000175) Cleft palate 349 / 7739
17
 (HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
18
 (HPO:0000160) Narrow mouth 188 / 7739
19
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
20
 (HPO:0009119) Aplasia/Hypoplasia of the frontal sinuses Frequent [Orphanet] 6 / 7739
21
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
22
 (HPO:0002645) Wormian bones 65 / 7739
23
 (HPO:0004437) Cranial hyperostosis Frequent [Orphanet] 55 / 7739
24
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
25
 (HPO:0000347) Micrognathia 426 / 7739
26
 (HPO:0002084) Encephalocele Occasional [Orphanet] 70 / 7739
27
 (HPO:0000369) Low-set ears 372 / 7739
28
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
29
 (HPO:0000405) Conductive hearing impairment 164 / 7739
30
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
31
 (HPO:0001249) Intellectual disability 1089 / 7739
32
 (HPO:0009467) Radial deviation of the 2nd finger 6 / 7739
33
 (HPO:0010109) Short hallux Very frequent [Orphanet] 27 / 7739
34
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
35
 (HPO:0002986) Radial bowing 27 / 7739
36
 (HPO:0001374) Congenital hip dislocation 51 / 7739
37
 (HPO:0003031) Ulnar bowing 16 / 7739
38
 (HPO:0001841) Preaxial foot polydactyly Occasional [Orphanet] 24 / 7739
39
 (HPO:0005048) Synostosis of carpal bones Occasional [Orphanet] 39 / 7739
40
 (HPO:0002475) Myelomeningocele Occasional [Orphanet] 29 / 7739
41
 (HPO:0008087) Nonossified fifth metatarsal 2 / 7739
42
 (HPO:0001838) Rocker bottom foot 85 / 7739
43
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
44
 (HPO:0001159) Syndactyly 140 / 7739
45
 (HPO:0003468) Abnormality of the vertebrae Frequent [Orphanet] 77 / 7739
46
 (HPO:0100259) Postaxial polydactyly 85 / 7739
47
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
48
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
49
 (HPO:0001850) Abnormality of the tarsal bones Occasional [Orphanet] 40 / 7739
50
 (HPO:0000946) Hypoplastic ilia 21 / 7739
51
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
52
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
53
 (HPO:0002982) Tibial bowing 36 / 7739
54
 (HPO:0000767) Pectus excavatum 244 / 7739
55
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
56
 (HPO:0003304) Spondylolysis 11 / 7739
57
 (HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
58
 (HPO:0000926) Platyspondyly 150 / 7739
59
 (HPO:0002980) Femoral bowing 36 / 7739
60
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
61
 (HPO:0011001) Increased bone mineral density Frequent [Orphanet] 78 / 7739
62
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
63
 (HPO:0010743) Short metatarsal 56 / 7739
64
 (HPO:0002991) Abnormality of the fibula Frequent [Orphanet] 49 / 7739
65
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
66
 (HPO:0001539) Omphalocele Frequent [Orphanet] 102 / 7739
67
 (HPO:0004322) Short stature 1232 / 7739
68
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
69
 (HPO:0008897) Postnatal growth retardation 113 / 7739
70
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
71
 (HPO:0002093) Respiratory insufficiency 410 / 7739
72
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
73
 (HPO:0006381) Rudimentary fibula 4 / 7739
74
 (OMIM) Short, wavy ribs 2 / 7739
75
 (OMIM) Dysharmonic bone maturation 1 / 7739
76
 (OMIM) Dense long bones 2 / 7739
77
 (OMIM) 'Tree-frog' hands 1 / 7739
78
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
79
 (OMIM) Broad, short thumbs 4 / 7739
80
 (OMIM) Severe micrognathia 3 / 7739
81
 (OMIM) Subluxed elbow, wrist, and knee 1 / 7739
82
 (OMIM) Short, broad halluces 2 / 7739
83
 (OMIM) Thin, wavy clavicles 1 / 7739
84
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
85
 (OMIM) Hypoplastic, irregular metacarpals 1 / 7739
86
 (OMIM) Sclerotic skull base 3 / 7739
87
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739
88
 (OMIM) 'Tree-frog' feet 2 / 7739
89
 (OMIM) Wide sutures 2 / 7739
90
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
91
 (OMIM) Flexed, overlapping fingers 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Otopalatodigital syndrome-2 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD; 305620), otopalatodigital syndrome-1 (OPD1; 311300), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum. At the ...
Clinical Description OMIM Fitch et al. (1976) described a male infant with microcephaly, small mouth, cleft palate, flexed overlapping fingers with syndactyly of digits 3 and 4, and syndactyly of toes 2 to 5. An earlier born half sib, who died ...
Molecular genetics OMIM Robertson et al. (2003) demonstrated that OPD2 is caused by gain-of-function mutations in the gene encoding filamin A (FLNA; 300017). Loss-of-function mutations in FLNA result in an embryonic lethal state in males and manifest in females as a ...