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
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ICD-10: |
Q87.0 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
X-linked dominant [Orphanet] |
Age of onset: |
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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:
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(HPO:0009804) | Reduced number of teeth | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000160) | Narrow mouth | 188 / 7739 | ||||
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(HPO:0001571) | Multiple impacted teeth | 5 / 7739 | ||||
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(HPO:0002007) | Frontal bossing | 366 / 7739 | ||||
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(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
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(HPO:0000445) | Wide nose | Very frequent [Orphanet] | 190 / 7739 | |||
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(HPO:0001592) | Selective tooth agenesis | 16 / 7739 | ||||
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(HPO:0000336) | Prominent supraorbital ridges | Very frequent [Orphanet] | 45 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0002737) | Thick skull base | 3 / 7739 | ||||
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(HPO:0002688) | Absent frontal sinuses | 12 / 7739 | ||||
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(HPO:0012368) | Flat face | 106 / 7739 | ||||
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(HPO:0001476) | Delayed closure of the anterior fontanelle | 23 / 7739 | ||||
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(HPO:0000269) | Prominent occiput | 43 / 7739 | ||||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0009119) | Aplasia/Hypoplasia of the frontal sinuses | Frequent [Orphanet] | 6 / 7739 | |||
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(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
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(HPO:0000174) | Abnormality of the palate | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0004437) | Cranial hyperostosis | Frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0003196) | Short nose | 264 / 7739 | ||||
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(HPO:0000405) | Conductive hearing impairment | 164 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | Very frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0001256) | Intellectual disability, mild | 141 / 7739 | ||||
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(HPO:0001852) | Sandal gap | Very frequent [Orphanet] | 63 / 7739 | |||
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(HPO:0010055) | Broad hallux | 56 / 7739 | ||||
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(HPO:0001770) | Toe syndactyly | 149 / 7739 | ||||
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(HPO:0009623) | Proximal placement of thumb | Frequent [Orphanet] | 50 / 7739 | |||
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(HPO:0002673) | Coxa valga | 57 / 7739 | ||||
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(HPO:0001850) | Abnormality of the tarsal bones | Occasional [Orphanet] | 40 / 7739 | |||
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(HPO:0010047) | Short 5th metacarpal | 8 / 7739 | ||||
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(HPO:0001782) | Bulbous tips of toes | 2 / 7739 | ||||
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(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
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(HPO:0008089) | Abnormality of the fifth metatarsal bone | 1 / 7739 | ||||
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(HPO:0002827) | Hip dislocation | 94 / 7739 | ||||
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(HPO:0008127) | Bipartite calcaneus | 4 / 7739 | ||||
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(HPO:0003042) | Elbow dislocation | Frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0010109) | Short hallux | Very frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0000767) | Pectus excavatum | 244 / 7739 | ||||
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(HPO:0010041) | Short 3rd metacarpal | 5 / 7739 | ||||
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(HPO:0009882) | Short distal phalanx of finger | Frequent [Orphanet] | 125 / 7739 | |||
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(HPO:0009601) | Aplasia/Hypoplasia of the thumb | Frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0005048) | Synostosis of carpal bones | Occasional [Orphanet] | 39 / 7739 | |||
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(HPO:0001241) | Capitate-hamate fusion | 6 / 7739 | ||||
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(HPO:0009642) | Broad distal phalanx of the thumb | 4 / 7739 | ||||
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(HPO:0004279) | Short palm | Frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0001163) | Abnormality of the metacarpal bones | Frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0006389) | Limited knee flexion | 2 / 7739 | ||||
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(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0006487) | Bowing of the long bones | Frequent [Orphanet] | 95 / 7739 | |||
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(HPO:0005090) | Lateral femoral bowing | 2 / 7739 | ||||
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(HPO:0004232) | Accessory carpal bones | 2 / 7739 | ||||
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(HPO:0010044) | Short 4th metacarpal | 14 / 7739 | ||||
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(HPO:0003083) | Dislocated radial head | 35 / 7739 | ||||
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(HPO:0001377) | Limited elbow extension | 38 / 7739 | ||||
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(HPO:0003468) | Abnormality of the vertebrae | Occasional [Orphanet] | 77 / 7739 | |||
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(HPO:0011001) | Increased bone mineral density | Frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0001539) | Omphalocele | 102 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0008404) | Nail dystrophy | 89 / 7739 | ||||
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(HPO:0002164) | Nail dysplasia | 82 / 7739 | ||||
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(OMIM) | Thick frontal bone | 1 / 7739 | ||||
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(OMIM) | Dense middle-ear ossicles | 1 / 7739 | ||||
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(OMIM) | Steep clivus | 1 / 7739 | ||||
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(OMIM) | Small pedicles | 1 / 7739 | ||||
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(OMIM) | Short third, fourth, fifth metacarpals | 1 / 7739 | ||||
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(OMIM) | 'Tree-frog' feet | 2 / 7739 | ||||
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(OMIM) | Short square fingernails | 1 / 7739 | ||||
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(HPO:0001423) | X-linked dominant inheritance | 69 / 7739 | ||||
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(OMIM) | Anomalous fifth metatarsal | 1 / 7739 | ||||
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(OMIM) | Short square nails | 1 / 7739 | ||||
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(OMIM) | Small iliac crests | 1 / 7739 | ||||
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(OMIM) | Absent sphenoid sinuses | 1 / 7739 | ||||
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(OMIM) | Short, broad halluces | 2 / 7739 | ||||
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(OMIM) | Flat acetabulum | 1 / 7739 | ||||
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(OMIM) | Short, broad distal phalanges, especially thumbs | 1 / 7739 | ||||
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(OMIM) | Mild, lateral femoral bowing | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |