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Bohring-Opitz syndrome

Disease Summary
Associated Targets (3)
Tbio

3


Explore Associated Targets
Mondo Description 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.
Uniprot Description A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints.
Mondo Term and Equivalent IDs
MONDO:0011510:  Bohring-Opitz syndrome
GARD:0010140: 
MESH:C537419: 
NCIT:C131533: 
Orphanet:97297: 
SCTID:720565000: 
UMLS:C0796232: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found