ORPHA:363992
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Synonyms: 15q26.3 microdeletion syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ichthyosis-short stature-brachydactyly-microspherophakia syndrome | 15q26.3 microdeletion syndrome |
| fr | Syndrome d'ichtyose-petite taille-brachydactylie-microsphérophakie | Syndrome de microdélétion 15q26.3 |
| de | Ichthyose-Kleinwuchs-Brachydaktylie-Mikrosphärenphakie-Syndrom | Mikrodeletionssyndrom 15q26.3 |
| es | Síndrome de ictiosis-talla baja-braquidactilia-microesferofaquia | Síndrome de microdeleción 15q26.3 |
| it | Sindrome ittiosi-bassa statura-brachidattilia-microsferofachia | Sindrome da microdelezione 15q26.3 |
| nl | Ichthyosis - kleine gestalte - brachydactylie - microsferofakie-syndroom | 15q26.3-microdeletiesyndroom |
| pt | Síndrome de ictiose-baixa estatura-braquidactilia-microsferofaquia | |
| pl | Zespół rybia łuska-niski wzrost-brachydaktylia-mikrosferofakia | Zespół mikrodelecji 15q26.3 |
| cs | Syndrom zahrnující ichtyózu, nízký vzrůst, brachydaktylii a mikrosférofakii | Mikrodeleční syndrom 15q26.3 |
| uk | Синдром іхтіозу-низькорослості-брахідактилії-мікросферофакії | Синдром мікроделеції 15q26.3 |
| zh | 鱼鳞病-身材矮小-短指-小球形晶状体综合征 | 15q26.3微缺失综合征 |
| tr | İktiyoz-kısa boy-brakidaktili-mikrosferofaki sendromu | 15q26.3 mikrodelesyon sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613195 | BTNT | validated | |
| OMIM | 615023 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0013176 | E | validated | |
| UMLS | C5190986 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:281244Autosomal ichthyosis syndrome with other associated signs
rare genetic diseases; rare skin diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:519294Syndromic microspherophakia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADAMTS17 | Role in the phenotype of | Assessed | HGNC:17109 | ENSG00000140470 | 607511 | 15q26.3 | ADAM metallopeptidase with thrombospondin type 1 motif 17 | 23754960[PMID] |
| CERS3 | Role in the phenotype of | Assessed | HGNC:23752 | ENSG00000154227 | 615276 | 15q26.3 | ceramide synthase 3 | 23754960[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 23754960[PMID]_24940034[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24940034[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363992
- This record as JSON: /data/d/363992.json