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. [ Orphanet:97297 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:720565000 (MONDO:equivalentTo)
  • Orphanet:97297 (OMIM:605039)
  • ICD10:Q87.8 (Orphanet:97297)
  • MESH:C537419 (MONDO:equivalentTo)
  • GARD:0010140 (MONDO:equivalentTo)
  • OMIM:605039 (Orphanet:97297)
  • UMLS:C0796232 (Orphanet:97297)
  • NCIT:C131533 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

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://identifiers.org/mesh/C537419

http://identifiers.org/omim/605039

http://linkedlifedata.com/resource/umls/id/C0796232

http://www.orpha.net/ORDO/Orphanet_97297

http://identifiers.org/snomedct/720565000

http://purl.obolibrary.org/obo/NCIT_C131533

has exact synonym

Bohring-Opitz syndrome

Oberklaid-Danks syndrome

Bohring syndrome

Opitz trigonocephaly-like syndrome

Bos syndrome

C-like syndrome

has related synonym

BOHRING-Opitz syndrome

BOPS

id

MONDO:0011510

seeAlso

https://rarediseases.info.nih.gov/diseases/10140/bohring-opitz-syndrome