Oculoectodermal syndrome
Synonyms: Aplasia cutis congenita-epibulbar dermoids syndrome · Toriello Lacassie Droste syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare ectodermal dysplasia syndrome characterized by aplasia cutis congenita and epibulbar dermoids. Affected individuals present mostly with multiple, asymmetrically distributed, hairless, non scarring, atrophic, congenital scalp lesions and unilateral or bilateral epibulbar dermoids with or without other ocular anomalies (including strabismus, nystagmus, microcornea, and microphthalmia). Eyelid coloboma, acrochordons, linear/cutaneous hyperpigmentation, mostly following Blaschko lines, can also be present. Giant cell granulomas of the jaws and nonossifying fibromas of the long bones are commonly observed in individuals starting from 5 years old. Additional and variable clinical features including growth failure, neurodevelopmental delay, epilepsy, learning difficulties, behavioral abnormalities, lymphedema, macrocephaly, cardiovascular defects, facial asymmetry and mild dysmorphism were reported in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculoectodermal syndrome | Aplasia cutis congenita-epibulbar dermoids syndrome · Toriello Lacassie Droste syndrome |
| fr | Syndrome oculo-ectodermique | Syndrome d'aplasie cutanée congénitale-dermoïdes épibulbaires · Syndrome de Toriello-Lacassie-Droste |
| de | Okulo-ekto-dermales Syndrom | Syndrom der Aplasia cutis congenita mit epibulbärem Dermoid · Toriello-Lacassie-Droste-Syndrom |
| es | Síndrome oculoectodérmico | Síndrome de Toriello Lacassie Droste · Síndrome de aplasia cutis congénita-dermoides epibulbar |
| it | Sindrome oculo-ectodermica | Aplasia cutanea congenita - dermoidi epibulbari · Sindrome aplasia cutanea congenita-dermoidi epibulbari |
| nl | Oculo-ectodermaal syndroom | Aplasia cutis congenita - epibulbaire dermoïden-syndroom · Syndroom van Toriello Lacassie Droste |
| pt | Síndrome óculoectodérmico | Síndrome Toriello Lacassie Droste · Síndrome de aplasia cutis congénita-dermoides epibulbar |
| pl | Zespół Toriello, Lacassie i Droste | Wrodzona aplazja skóry - guzek nagałkowy · Zespół oczno-ektodermalny |
| cs | Toriellové-Lacassieův-Drosteův syndrom | Syndrom zahrnující aplasia cutis congenita a epibulbární dermoidy · Okuloektodermální syndrom · Toriello-Lacassie-Drosteův syndrom |
| uk | Окулоектодермальний синдром | Синдром вродженої аплазія шкіри - епібульбарних дермоїдів |
| zh | Toriello-Lacassie-Droste 综合征 | 先天性表皮发育不良-眼球外层皮样囊肿综合征 |
| tr | Toriello-Lacassie-Droste sendromu | Oküloektodermal sendrom · Aplazi kutis konjenita-epibulbar dermoid sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600268 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0010854 | E | validated | |
| MeSH | C563969 | E | validated | |
| UMLS | C1838329 | E | validated | |
| GARD | 10366 | 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 (1):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:6407 | ENSG00000133703 | 190070 | 12p12.1 | KRAS proto-oncogene, GTPase | 25808193[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 25251940[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25251940[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
36 annotations · validated 2017-06-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000502 | Abnormal conjunctiva morphology | |
| HP:0012639 | Abnormal nervous system morphology | |
| HP:0001331 | Absent septum pellucidum | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0001140 | Limbal dermoid | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0000598 | Abnormality of the ear | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0000463 | Anteverted nares | |
| HP:0000581 | Blepharophimosis | |
| HP:0001156 | Brachydactyly | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001510 | Growth delay | |
| HP:0000365 | Hearing impairment | |
| HP:0001252 | Hypotonia | |
| HP:0008749 | Laryngeal hypoplasia | |
| HP:0000256 | Macrocephaly | |
| HP:0001561 | Polyhydramnios | |
| HP:0000520 | Proptosis | |
| HP:0003196 | Short nose | |
| HP:0004279 | Short palm | |
| HP:0012745 | Short palpebral fissure | |
| HP:0000486 | Strabismus | |
| HP:0000506 | Telecanthus | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000014 | Abnormality of the bladder | |
| HP:0000036 | Abnormality of the penis | |
| HP:0000039 | Epispadias | |
| HP:0000625 | Eyelid coloboma | |
| HP:0000047 | Hypospadias | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3339
- This record as JSON: /data/d/3339.json