Carey-Fineman-Ziter syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CAREY-FINEMAN-ZITER SYNDROME
CFZ SYNDROME
Myopathy - Moebius - Robin syndrome
Number of Symptoms 45
OrphanetNr: 1358
OMIM Id: 254940
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 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
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
2
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
3
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
4
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
5
 (HPO:0000347) Micrognathia 426 / 7739
6
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
7
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
8
 (HPO:0000175) Cleft palate 349 / 7739
9
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
10
 (HPO:0000171) Microglossia Very frequent [Orphanet] 27 / 7739
11
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
12
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
13
 (HPO:0010628) Facial palsy Very frequent [Orphanet] 146 / 7739
14
 (HPO:0000162) Glossoptosis Frequent [Orphanet] 26 / 7739
15
 (HPO:0000201) Pierre-Robin sequence 20 / 7739
16
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
17
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
18
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
19
 (HPO:0000597) Ophthalmoparesis Very frequent [Orphanet] 71 / 7739
20
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
21
 (HPO:0006824) Cranial nerve paralysis Frequent [Orphanet] 81 / 7739
22
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
23
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
24
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
25
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
26
 (HPO:0009465) Ulnar deviation of finger Occasional [Orphanet] 48 / 7739
27
 (HPO:0009751) Aplasia of the pectoralis major muscle Occasional [Orphanet] 8 / 7739
28
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
29
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
30
 (HPO:0001508) Failure to thrive 454 / 7739
31
 (HPO:0001510) Growth delay 295 / 7739
32
 (HPO:0100735) Hypertensive crisis Occasional [Orphanet] 9 / 7739
33
 (HPO:0001602) Laryngeal stenosis Occasional [Orphanet] 21 / 7739
34
 (HPO:0010547) Muscle flaccidity 466 / 7739
35
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
36
 (HPO:0003198) Myopathy Occasional [Orphanet] 151 / 7739
37
 (HPO:0001324) Muscle weakness 859 / 7739
38
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
39
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
40
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
41
 (OMIM) Moebius sequence 1 / 7739
42
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
43
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
44
 (OMIM) Unusual face 1 / 7739
45
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: