Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Synonyms: Cryptomicrotia-brachydactyly syndrome · Tonoki-Ohura-Niikawa syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cryptomicrotia-brachydactyly-excess fingertip arch syndrome | Cryptomicrotia-brachydactyly syndrome · Tonoki-Ohura-Niikawa syndrome |
| fr | Syndrome de cryptomicrotie-brachydactylie-anomalies des dermatoglyphes | Syndrome de Tonoki-Ohura-Niikawa · Syndrome de cryptomicrotie-brachydactylie |
| de | Syndrom der Kryptomikrotie mit Brachydaktylie und exzessiven Bogenmuster der Fingerspitzen | Kryptomikrotie-Brachydaktylie-Syndrom · Tonoki-Ohura-Niikawa-Syndrom |
| es | Síndrome de criptomicrotia-braquidactilia-exceso de arco de la yema del dedo | Síndrome de Tonoki-Ohura-Niikawa · Síndrome de criptomicrotia-braquidactilia |
| it | Critptomicrotia - brachidattilia - eccesso di disegni ad arco sui polpastrelli | Sindrome criptomicrotia-brachidattilia · Sindrome di Tonoki-Ohura-Niikawa |
| nl | Cryptomicrotie - brachydactylie - excessieve vingertopboog-syndroom | Cryptomicrotie - brachydactylie-syndroom · Syndroom van Tonoki-Ohura-Niikawa |
| pt | Síndrome de criptomicrotia-braquidactilia-excesso de arcos digitais | Síndrome Tonoki-Ohura-Niikawa |
| pl | Kryptomikrocja - brachydaktylia - dodatkowy łuk koniuszka palca | Zespół kryptomikrocja-brachydaktylia · Zespół Tonoki, Ohura i Niikawa |
| cs | Syndrom zahrnující kryptomikrocii, brachydaktylii a prodloužené konečky prstů | Syndrom zahrnující kryptomikrocii a brachydaktylii · Tonokiho-Ohuraův-Niikawaův syndrom · Tonoki-Ohura-Niikawaův syndrom |
| uk | Синдром криптомікротії-брахідактилії-надлишкової дуги кінчиків пальців | Синдром криптомікротії-брахідактилії · Синдром Тонокі-Охура-Ніікава |
| zh | 隐性小耳畸形-短指-指尖过度弯曲综合征 | 隐性小耳畸形-短指综合征 |
| tr | Kriptomikrotya-brakidaktili-aşırı parmak ucu ark sendromu | Tonoki-Ohura-Niikawa sendromu · Kriptomikrotia-brakidaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 123560 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0007409 | E | validated | |
| MeSH | C536219 | E | validated | |
| UMLS | C1852454 | E | validated | |
| GARD | 8174 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 3400730[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3400730[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0005872 | Brachytelomesophalangy | |
| HP:0009882 | Short distal phalanx of finger | |
| Frequent (79-30%) | ||
| HP:0000048 | Bifid scrotum | |
| HP:0001480 | Freckling | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0000506 | Telecanthus | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1547
- This record as JSON: /data/d/1547.json