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Bohring-Opitz syndrome
1 OMIM reference -
1 associated gene
20 connected diseases
52 signs/symptoms
Disease Type of connection
BAP1-related tumor predisposition syndrome
Acute promyelocytic leukemia
Cowden syndrome
Proteus syndrome
Weaver syndrome
Estrogen resistance syndrome
17q11 microdeletion syndrome
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Autosomal dominant hyper-IgE syndrome
Glucocorticoid resistance
Inherited acute myeloid leukemia
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Matthew-Wood syndrome
Synonym(s):
- BOS syndrome
- Bohring syndrome
- C-like syndrome
- Oberklaid-Danks syndrome
- Opitz trigonocephaly-like syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ASXL1 Q8IXJ9612990
Very frequent
- Beaked nose
- Broad cheeks / cherub-like / cherubin face
- Broad nose / nasal bridge
- Camptodactyly of fingers
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coarse / thick hair
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flat supraorbital ridge
- Hirsutism / hypertrichosis / Increased body hair
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Low hair line-front
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow forehead
- Proptosis / exophthalmos
- Restricted joint mobility / joint stiffness / ankylosis
- Trigonocephaly
- Ulnar deviation of fingers
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Frequent
- Abnormally placed nipples
- Anomalies of spine, vertebrae and pelvis
- Anterior chamber anomaly
- Cleft lip
- Congenital cardiac anomaly / malformation / cardiopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Death in infancy
- Dilated cerebral ventricles without hydrocephaly
- Elbow dislocation
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hypertelorism
- Intestinal / gut / bowel malrotation
- Narrow rib cage / thorax
- Oral synechiae / abnormal frenulae
- Retinopathy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short rib cage / thorax
- Strabismus / squint
- Structural anomalies of the pancreas
- Supernumerary nipples / polythelia
- Synophris / synophrys

Occasional
- Dandy-Walker anomaly
- Hearing loss / hypoacusia / deafness
- Inguinal / inguinoscrotal / crural hernia
- Myopia
- Polyhydramnios
- Renal / kidney anomalies
- Small foot
- Talipes-varus / metatarsal varus