Ichthyosis-oral and digital anomalies syndrome
historical
Synonyms: Clayton Smith-Donnai syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by ichthyosis, skeletal and digital anomalies (including flexion deformities of the large joints, proximal interphalangeal joints, absent distal flexion crease of fingers, tapering fingers, hypoplastic toes and nails, dislocatable ankles) and facial dysmorphism (including short forehead, epicanthic folds, small mouth with thin upper lip, midline lower lip groove, and fullness of the lateral eyelids, cleft palate can also be present). Additional clinical features may include developmental delay, generalized hypotonia, feeding difficulties, recurrent chest and gastrointestinal infections. There have been no further descriptions in the literature since 1989.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ichthyosis-oral and digital anomalies syndrome | Clayton Smith-Donnai syndrome |
| fr | Syndrome d'ichtyose-doigts fusiformes-sillon labial médian | Syndrome de Clayton Smith-Donnai |
| de | Ichthyose-ungewöhnliches Gesicht-Fingeranomalien-Syndrom | Clayton-Smith-Donnai-Syndrom |
| es | Síndrome de ictiosis-anomalías orales y digitales | Síndrome de Clayton-Smith-Donnai |
| it | Ittiosi - anomalie orali e digitali | Sindrome di Clayton Smith-Donnai |
| nl | Ichthyosis - orale en digitale anomalieën-syndroom | Syndroom van Clayton Smith-Donnai |
| pt | Síndrome de ictiose-anomalias orais e digitais | Ictiose-dedos fusiformes-fosseta mediana no lábio inferior · Síndrome Clayton-Smith-Donnai |
| pl | Rybia łuska - anomalie jamy ustnej i kończyn | Zespół Clayton-Smith i Donnai |
| cs | Syndrom zahrnující ichtyózu a anomálie úst a prstů | Clayton-Smithové-Donnaiové syndrom · Clayton-Smith-Donnaiové syndrom |
| uk | Синдром іхтіозу-аномалій роту та пальців | Синдром Клейтона Сміта-Доннаї |
| zh | 鱼鳞病-口指畸形综合征 | Clayton Smith-Donnai综合征 |
| tr | İktiyoz-oral ve dijital anomaliler sendromu | Clayton Smith-Donnai sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 258840 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.2 | NTBT | index | validated |
| MONDO | 0009792 | E | validated | |
| UMLS | C4518538 | E | validated | |
| GARD | 2960 | 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 (4):
- ORPHA:281244Autosomal ichthyosis syndrome with other associated signs
rare genetic diseases; rare skin diseases - 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 - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases
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 | 2732996[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2732996[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2272
- This record as JSON: /data/d/2272.json