FACIOCARDIOMELIC SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 33
OrphanetNr:
OMIM Id: 612731
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000154) Wide mouth 137 / 7739
2
 (HPO:0000506) Telecanthus 156 / 7739
3
 (HPO:0010764) Short eyelashes 3 / 7739
4
 (HPO:0000252) Microcephaly 832 / 7739
5
 (HPO:0000463) Anteverted nares 305 / 7739
6
 (HPO:0005280) Depressed nasal bridge 381 / 7739
7
 (HPO:0000347) Micrognathia 426 / 7739
8
 (HPO:0000343) Long philtrum 262 / 7739
9
 (HPO:0000689) Dental malocclusion 114 / 7739
10
 (HPO:0000508) Ptosis 459 / 7739
11
 (HPO:0000577) Exotropia 43 / 7739
12
 (HPO:0001249) Intellectual disability 1089 / 7739
13
 (HPO:0004634) Cuboid-shaped vertebral bodies 4 / 7739
14
 (HPO:0008839) Hypoplastic pelvis 18 / 7739
15
 (HPO:0000774) Narrow chest 167 / 7739
16
 (HPO:0003100) Slender long bone 45 / 7739
17
 (HPO:0002753) Thin bony cortex 16 / 7739
18
 (HPO:0010442) Polydactyly 69 / 7739
19
 (HPO:0000938) Osteopenia 138 / 7739
20
 (HPO:0005832) Dysharmonic delayed bone age 3 / 7739
21
 (HPO:0200000) Dysharmonic bone age 3 / 7739
22
 (HPO:0001520) Large for gestational age 34 / 7739
23
 (OMIM) Broad nasal fossae 1 / 7739
24
 (OMIM) Long bones have thin cortices 1 / 7739
25
 (OMIM) Large neck 1 / 7739
26
 (OMIM) Single atrium 2 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
 (OMIM) Molding disturbance of metacarpal bones 1 / 7739
29
 (OMIM) Hypertrophy of first ray 1 / 7739
30
 (OMIM) Prominent maxilla 1 / 7739
31
 (OMIM) Proximal megaepiphysis of metatarsal bones 1 / 7739
32
 (OMIM) Polydactyly type A 1 / 7739
33
 (OMIM) Prominent trapezius muscles 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Garcia-Ortiz et al. (2007) reported a sister and 2 brothers who had neonatal macrosomia, mental retardation, microcephaly, distinctive facial features, large neck, narrow shoulders, prominent trapezoid muscles, polydactyly type A in all extremities, and congenital heart disease consisting ...