loading...| Preferred Name |
Bohring-Opitz syndrome |
| Synonyms |
BOHRING-Opitz syndrome BOPS C-like syndrome Bohring-Opitz syndrome Bohring syndrome Bos syndrome Oberklaid-Danks syndrome Opitz trigonocephaly-like syndrome |
| Definitions |
Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0011510 |
| database_cross_reference |
OMIM:605039 MESH:C537419 GARD:0010140 Orphanet:97297 NCIT:C131533 SCTID:720565000 UMLS:C0796232 |
| definition |
Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported. |
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0796232 http://purl.obolibrary.org/obo/NCIT_C131533 http://identifiers.org/snomedct/720565000 |
| has_exact_synonym |
C-like syndrome Bohring-Opitz syndrome Bohring syndrome Bos syndrome Oberklaid-Danks syndrome Opitz trigonocephaly-like syndrome |
| has_related_synonym |
BOHRING-Opitz syndrome BOPS |
| IAO_0000233 | |
| id |
MONDO:0011510 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
| label |
Bohring-Opitz syndrome |
| notation |
MONDO:0011510 |
| prefLabel |
Bohring-Opitz syndrome |
| seeAlso |
https://rarediseases.info.nih.gov/diseases/10140/bohring-opitz-syndrome |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0015159 |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015159 |