cerebrocostomandibular syndrome
Findings
No curated finding names cerebrocostomandibular syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.
Definition from the Mondo Disease Ontology (MONDO:0007301), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
35 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.
- Pierre-Robin sequenceHPOHP:0000201
- 14 of 16 reported patients
- Bell-shaped thoraxHPOHP:0001591
- 7 of 16 reported patients
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- 10 of 15 reported patients
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Neonatal respiratory distressHPOHP:0002643
- Very frequent (80% to 99% of cases)
- Posterior rib gapHPOHP:0030282
- 10 of 15 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 23
- KyphosisHPOHP:0002808
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- TracheomalaciaHPOHP:0002779
- Frequent (30% to 79% of cases)
- Cerebral calcificationHPOHP:0002514
- Occasional (5% to 29% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Occasional (5% to 29% of cases)
- HydranencephalyHPOHP:0002324
- Occasional (5% to 29% 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.
- SNRPBHGNC:11153
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Semidominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021