Bohring-opitz syndrome

Preferred Label : Bohring-opitz syndrome;

Symbol : BOPS;

CISMeF acronym : BOPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : C-like syndrome; Opitz trigonocephaly-like syndrome; Bohring syndrome; BOS;

Description : Bohring-Opitz syndrome is a malformation 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 (summary by Hoischen et al., 2011). See also the C syndrome (211750), a disorder with a similar phenotype caused by heterozygous mutation in the CD96 gene (606037) on chromosome 3q13.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the additional sex combs-like 1 gene (ASXL1, 612990.0001);

Prefixed ID : #605039;

Details

Origin ID

605039;

UMLS CUI

C0796232;

Automatic exact mappings (from CISMeF team)
- ASXL1 wt Allele [NCIt concept]
- Bleeding on Probing [NCIt concept]
- Bleomycin/Prednisone/Vincristine [NCIt concept]
- Bosnian Language [NCIt concept]
- Bronchiolitis Obliterans Syndrome [NCIt concept]
- Buschke-Ollendorff syndrome [DO Concept]
- EYA1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Bohring Opitz syndrome (disorder) [SNOMED CT concept]
- Bohring syndrome [MeSH concept]
- Bohring-Opitz Syndrome [NCIt concept]
- Bohring-Opitz syndrome [ORDO Disease]
- bohring syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Asxl transcriptional regulator 1 [OMIM gene]
HPO term(s)
- Abnormality of the optic nerve [HPO term]
- Agenesis of corpus callosum [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad alveolar ridges [HPO term]
- Broad palm [HPO term]
- Camptodactyly [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Dandy-Walker malformation [HPO term]
- Deep palmar crease [HPO term]
- Deep plantar creases [HPO term]
- Delayed peripheral myelination [HPO term]
- Dislocated radial head [HPO term]
- Facial hemangioma [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Gray matter heterotopia [HPO term]
- Hirsutism [HPO term]
- Hyperechogenic pancreas [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the toes [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, profound [HPO term]
- Intestinal malrotation [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint dislocation [HPO term]
- Long face [HPO term]
- Low anterior hairline [HPO term]
- Low-set ears [HPO term]
- Mesomelic/rhizomelic limb shortening [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Myopia [HPO term]
- Narrow forehead [HPO term]
- Narrow palate [HPO term]
- Nevus flammeus [HPO term]
- Overlapping toe [HPO term]
- Polyhydramnios [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent eyes [HPO term]
- Prominent forehead [HPO term]
- Prominent metopic ridge [HPO term]
- Proptosis [HPO term]
- Retrognathia [HPO term]
- Rhizomelic shortening [HPO term]
- Sacral dimple [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Short toe [HPO term]
- Strabismus [HPO term]
- Supernumerary nipple [HPO term]
- Syndactyly [HPO term]
- Tapered finger [HPO term]
- Thick hair [HPO term]
- Trigonocephaly [HPO term]
- Ulnar deviation of the wrist [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Vesicoureteral reflux [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Bohring-Opitz syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bohring Opitz syndrome (disorder) [SNOMED CT concept]
- Bohring syndrome [MeSH concept]
- Bohring-Opitz Syndrome [NCIt concept]
- Bohring-Opitz syndrome [ORDO Disease]
- bohring syndrome [MeSH Supplementary Concept]

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