Bohring-Opitz syndrome
Findings
No curated finding names Bohring-Opitz syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Bohring-Opitz syndrome is characterized 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.
Definition from the Mondo Disease Ontology (MONDO:0011510), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
84 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Failure to thriveHPOHP:0001508
- 6 of 6 reported patients
- Feeding difficultiesHPOHP:0011968
- 6 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- Profound intellectual disabilityHPOHP:0002187
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- ProptosisHPOHP:0000520
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ASXL1HGNC:18318
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · Illumina · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: Bohring-Opitz syndrome
- Also called
- Bohring syndromeBos syndromeC-like syndromeOberklaid-Danks syndromeOpitz trigonocephaly-like syndrome