Cerebro-costo-mandibular syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: RIB GAP DEFECTS WITH MICROGNATHIA
CCM SYNDROME
CCMS
Number of Symptoms 63
OrphanetNr: 1393
OMIM Id: 117650
ICD-10: Q87.8
UMLs: C0265342
MeSH:
MedDRA:
Snomed: 51780007

Prevalence, inheritance and age of onset:

Prevalence: 75 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Dysostosis with predominant vertebral and costal involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
2
 (HPO:0002643) Neonatal respiratory distress 22 / 7739
3
 (HPO:0001611) Nasal speech 48 / 7739
4
 (HPO:0004468) Anomalous tracheal cartilage 2 / 7739
5
 (HPO:0002779) Tracheomalacia Frequent [Orphanet] 26 / 7739
6
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
7
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
8
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
9
 (HPO:0000158) Macroglossia Frequent [Orphanet] 119 / 7739
10
 (HPO:0001249) Intellectual disability 50% [HPO:probinson] 1089 / 7739
11
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
12
 (HPO:0001561) Polyhydramnios 191 / 7739
13
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
14
 (HPO:0009466) Radial deviation of finger Occasional [Orphanet] 101 / 7739
15
 (HPO:0001374) Congenital hip dislocation 51 / 7739
16
 (HPO:0002987) Elbow flexion contracture 64 / 7739
17
 (HPO:0005792) Short humerus 34 / 7739
18
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
19
 (HPO:0000347) Micrognathia 426 / 7739
20
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
21
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
22
 (HPO:0006593) Anomalous rib insertion to vertebrae 1 / 7739
23
 (HPO:0000878) 11 pairs of ribs 19 / 7739
24
 (HPO:0001591) Bell-shaped thorax 35 / 7739
25
 (HPO:0005257) Thoracic hypoplasia 79 / 7739
26
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
27
 (HPO:0002650) Scoliosis 705 / 7739
28
 (HPO:0002324) Hydranencephaly Occasional [Orphanet] 9 / 7739
29
 (HPO:0002435) Meningocele Occasional [Orphanet] 23 / 7739
30
 (HPO:0002475) Myelomeningocele Occasional [Orphanet] 29 / 7739
31
 (HPO:0002414) Spina bifida Occasional [Orphanet] 47 / 7739
32
 (HPO:0004695) Calcaneal epiphyseal stippling 1 / 7739
33
 (HPO:0000272) Malar flattening 277 / 7739
34
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
35
 (HPO:0100736) Abnormality of the soft palate Occasional [Orphanet] 6 / 7739
36
 (HPO:0000185) Cleft soft palate 18 / 7739
37
 (HPO:0000218) High palate 356 / 7739
38
 (HPO:0010290) Short hard palate Occasional [Orphanet] 5 / 7739
39
 (HPO:0000164) Abnormality of the teeth 291 / 7739
40
 (HPO:0000162) Glossoptosis Frequent [Orphanet] 26 / 7739
41
 (HPO:0000343) Long philtrum 262 / 7739
42
 (HPO:0000286) Epicanthus 371 / 7739
43
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
44
 (HPO:0000465) Webbed neck Occasional [Orphanet] 81 / 7739
45
 (HPO:0000372) Abnormality of the auditory canal Frequent [Orphanet] 49 / 7739
46
 (HPO:0000369) Low-set ears 372 / 7739
47
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
48
 (HPO:0000086) Ectopic kidney 29 / 7739
49
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
50
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
51
 (HPO:0001371) Flexion contracture 220 / 7739
52
 (HPO:0008897) Postnatal growth retardation 113 / 7739
53
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
54
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
55
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
56
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
57
 (HPO:0002132) Porencephaly Occasional [Orphanet] 18 / 7739
58
 (OMIM) Abnormal tracheal cartilaginous ring 1 / 7739
59
 (OMIM) Absent twelfth rib 2 / 7739
60
 (OMIM) Posterior rib gap defects 1 / 7739
61
 (OMIM) Rudimentary rib 1 / 7739
62
 (OMIM) Sacral fusion 1 / 7739
63
 (OMIM) Severe micrognathia 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cerebrocostomandibular syndrome (CCMS) is characterized mainly by severe micrognathia, rib defects, and mental retardation. A spectrum of rib gap defects have been reported ranging from a few dorsal rib segments to complete absence of ossification. In about half ...
Clinical Description OMIM In a female and 2 male sibs, McNicholl et al. (1970) described a syndrome of mental retardation, palatal defects (short hard palate with central hole, absent soft palate, absent uvula), micrognathia, glossoptosis, and severe costovertebral abnormalities. A barking ...
Molecular genetics OMIM - Exclusion Studies

In a male Taiwanese infant with features consistent with CCMS, offspring of nonconsanguineous parents, Su et al. (2010) screened 3 candidate genes identified by Hennekam and Goldschmeding (1998) (MYF5, GSC, and RUNX2), as ...