Cerebrocostomandibular syndrome

Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.



Input patient's signs and symptoms


Narrow down the case reports



Total: 3 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(60.5%)
1437884
Maxillo-mandibular development in cerebrocostomandibular syndrome.
Kang YK, Lee SK, Chi JG.
Pediatr Pathol. 1992;12(5):717-24.
Glossoptosis Micrognathia
Brain Homo sapiens Infant, Newborn Male Mandible Maxilla Syndrome
2
(57.8%)
3978982
Cerebrocostomandibular syndrome. Case report and literature review.
Smith KG, Sekar KC.
Clin Pediatr (Phila). 1985;24(4):223-5.
Brachycephaly Micrognathia
Birth Weight Cleft Palate Homo sapiens Infant, Newborn Male Micrognathism Syndrome
3
(23.3%)
9419030
Progressive congenital kyphosis: report of five cases and review of the literature.
Philips MF, Dormans J, Drummond D, Schut L, Sutton LN.
Pediatr Neurosurg. 1997;26(3):130-43.
Kyphosis
Bone Transplantation Child Decompression, Surgical Disease Progression Females Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Male Severity of Illness Index X-Ray Computed Tomography
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0001591 Bell-shaped thorax Very frequent (99-80%)
HP:0002643 Neonatal respiratory distress Very frequent (99-80%)
HP:0030282 Posterior rib gap Very frequent (99-80%)
HP:0000162 Glossoptosis Frequent (79-30%)
HP:0000405 Conductive hearing impairment Frequent (79-30%)
HP:0000413 Atresia of the external auditory canal Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0001522 Death in infancy Frequent (79-30%)
HP:0002779 Tracheomalacia Frequent (79-30%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0011968 Feeding difficulties Frequent (79-30%)
HP:0000003 Multicystic kidney dysplasia Occasional (29-5%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000465 Webbed neck Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0002132 Porencephalic cyst Occasional (29-5%)
HP:0002324 Hydranencephaly Occasional (29-5%)
HP:0002414 Spina bifida Occasional (29-5%)
HP:0002435 Meningocele Occasional (29-5%)
HP:0002475 Myelomeningocele Occasional (29-5%)
HP:0002514 Cerebral calcification Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0010290 Short hard palate Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0000347 Micrognathia 2
HP:0002942 Thoracic kyphosis 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SNRPB small nuclear ribonucleoprotein polypeptides B and B1 6628