Otopalatodigital syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Taybi syndrome
Number of Symptoms 93
OrphanetNr: 669
OMIM Id: 304120
311300
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Branchial arch or oral-acral syndrome
 -Rare developmental defect during embryogenesis
Fronto-otopalatodigital syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Genetic branchial arch or oral-acral syndrome
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndrome or malformation associated with head and neck malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
2
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
3
 (HPO:0000126) Hydronephrosis 119 / 7739
4
 (HPO:0000028) Cryptorchidism 347 / 7739
5
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
6
 (HPO:0005280) Depressed nasal bridge 381 / 7739
7
 (HPO:0000269) Prominent occiput Frequent [Orphanet] 43 / 7739
8
 (HPO:0011800) Midface retrusion 221 / 7739
9
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
10
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
11
 (HPO:0000308) Microretrognathia Occasional [Orphanet] 78 / 7739
12
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
13
 (HPO:0000336) Prominent supraorbital ridges Frequent [Orphanet] 45 / 7739
14
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
15
 (HPO:0002694) Sclerosis of skull base 10 / 7739
16
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
17
 (HPO:0000272) Malar flattening 277 / 7739
18
 (HPO:0000283) Broad face 12 / 7739
19
 (HPO:0000175) Cleft palate 349 / 7739
20
 (HPO:0011220) Prominent forehead 137 / 7739
21
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
22
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
23
 (HPO:0000347) Micrognathia 426 / 7739
24
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
25
 (HPO:0002645) Wormian bones 65 / 7739
26
 (HPO:0004437) Cranial hyperostosis Frequent [Orphanet] 55 / 7739
27
 (HPO:0010559) Vertical clivus 3 / 7739
28
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
29
 (HPO:0012368) Flat face Frequent [Orphanet] 106 / 7739
30
 (HPO:0000260) Wide anterior fontanel 55 / 7739
31
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
32
 (HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
33
 (HPO:0000405) Conductive hearing impairment 164 / 7739
34
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
35
 (HPO:0000369) Low-set ears 372 / 7739
36
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
37
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
38
 (HPO:0001249) Intellectual disability 1089 / 7739
39
 (HPO:0011001) Increased bone mineral density Frequent [Orphanet] 78 / 7739
40
 (HPO:0002982) Tibial bowing 36 / 7739
41
 (HPO:0011304) Broad thumb 39 / 7739
42
 (HPO:0009467) Radial deviation of the 2nd finger 6 / 7739
43
 (HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
44
 (HPO:0000926) Platyspondyly 150 / 7739
45
 (HPO:0000773) Short ribs 70 / 7739
46
 (HPO:0009466) Radial deviation of finger Very frequent [Orphanet] 101 / 7739
47
 (HPO:0003298) Spina bifida occulta Occasional [Orphanet] 67 / 7739
48
 (HPO:0006487) Bowing of the long bones Frequent [Orphanet] 95 / 7739
49
 (HPO:0010560) Undulate clavicles 1 / 7739
50
 (HPO:0003031) Ulnar bowing 16 / 7739
51
 (HPO:0001838) Rocker bottom foot 85 / 7739
52
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
53
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
54
 (HPO:0009778) Short thumb 50 / 7739
55
 (HPO:0005048) Synostosis of carpal bones Frequent [Orphanet] 39 / 7739
56
 (HPO:0010109) Short hallux 27 / 7739
57
 (HPO:0001782) Bulbous tips of toes 2 / 7739
58
 (HPO:0003304) Spondylolysis 11 / 7739
59
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
60
 (HPO:0008087) Nonossified fifth metatarsal 2 / 7739
61
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
62
 (HPO:0002980) Femoral bowing 36 / 7739
63
 (HPO:0003312) Abnormal form of the vertebral bodies Occasional [Orphanet] 172 / 7739
64
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
65
 (HPO:0010055) Broad hallux 56 / 7739
66
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
67
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
68
 (HPO:0006160) Irregular metacarpals 1 / 7739
69
 (HPO:0002986) Radial bowing 27 / 7739
70
 (HPO:0000946) Hypoplastic ilia 21 / 7739
71
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
72
 (HPO:0005257) Thoracic hypoplasia Frequent [Orphanet] 79 / 7739
73
 (HPO:0010049) Short metacarpal 99 / 7739
74
 (HPO:0001770) Toe syndactyly 149 / 7739
75
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
76
 (HPO:0001374) Congenital hip dislocation 51 / 7739
77
 (HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
78
 (HPO:0010743) Short metatarsal 56 / 7739
79
 (HPO:0010557) Overlapping fingers 9 / 7739
80
 (HPO:0000774) Narrow chest 167 / 7739
81
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
82
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
83
 (HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
84
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
85
 (HPO:0008897) Postnatal growth retardation 113 / 7739
86
 (HPO:0001804) Hypoplastic fingernail Occasional [Orphanet] 62 / 7739
87
 (HPO:0002878) Respiratory failure 57 / 7739
88
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
89
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
90
 (HPO:0006381) Rudimentary fibula 4 / 7739
91
 (HPO:0003826) Stillbirth 40 / 7739
92
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
93
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: