Cleft palate - short stature - vertebral anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: Mathieu-De Broca-Bony syndrome
Number of Symptoms 30
OrphanetNr: 2015
OMIM Id:
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000069) Abnormality of the ureter Frequent [Orphanet] 47 / 7739
2
(HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
3
(HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
4
(HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
5
(HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
6
(HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
7
(HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
8
(HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
9
(HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
10
(HPO:0000670) Carious teeth Very frequent [Orphanet] 145 / 7739
11
(HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
12
(HPO:0002251) Aganglionic megacolon Very frequent [Orphanet] 78 / 7739
13
(HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
14
(HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
15
(HPO:0002816) Genu recurvatum Very frequent [Orphanet] 30 / 7739
16
(HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
17
(HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
18
(HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
19
(HPO:0011849) Abnormal bone ossification Frequent [Orphanet] 35 / 7739
20
(HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
21
(HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
22
(HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
23
(HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
24
(HPO:0002571) Achalasia Frequent [Orphanet] 19 / 7739
25
(HPO:0000775) Abnormality of the diaphragm Frequent [Orphanet] 62 / 7739
26
(HPO:0002250) Abnormality of the large intestine Frequent [Orphanet] 32 / 7739
27
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
28
(HPO:0001601) Laryngomalacia Frequent [Orphanet] 61 / 7739
29
(HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
30
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: