MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 28
OrphanetNr:
OMIM Id: 607597
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000506) Telecanthus 156 / 7739
2
 (HPO:0007633) Bilateral microphthalmos 13 / 7739
3
 (HPO:0000175) Cleft palate 349 / 7739
4
 (HPO:0000204) Cleft upper lip 193 / 7739
5
 (HPO:0002705) High, narrow palate 308 / 7739
6
 (HPO:0004478) Ethmoidal encephalocele 1 / 7739
7
 (HPO:0000625) Cleft eyelid 31 / 7739
8
 (HPO:0000453) Choanal atresia 76 / 7739
9
 (HPO:0002006) Facial cleft 25 / 7739
10
 (HPO:0002007) Frontal bossing 366 / 7739
11
 (HPO:0000244) Brachyturricephaly 9 / 7739
12
 (HPO:0000457) Depressed nasal ridge 85 / 7739
13
 (HPO:0000609) Optic nerve hypoplasia 26 / 7739
14
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
15
 (HPO:0000369) Low-set ears 372 / 7739
16
 (HPO:0001263) Global developmental delay 853 / 7739
17
 (HPO:0009852) Broad proximal phalanges of the hand 1 / 7739
18
 (HPO:0001773) Short foot 86 / 7739
19
 (HPO:0001382) Joint hypermobility 231 / 7739
20
 (HPO:0007481) Hyperpigmented nevi 6 / 7739
21
 (HPO:0001595) Abnormality of the hair 89 / 7739
22
 (OMIM) Abnormal eyebrows 2 / 7739
23
 (OMIM) Ocular cyst, inferior 1 / 7739
24
 (HPO:0003745) Sporadic 131 / 7739
25
 (OMIM) Reduced number of eyelashes 1 / 7739
26
 (OMIM) Nasal cleft 1 / 7739
27
 (OMIM) 'Chubby' proximal phalanges 1 / 7739
28
 (OMIM) Fish-like mouth 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Microphthalmia with cyst (see 251505) is the least common type of microphthalmia and is unilateral in 70% of cases. It occurs when the ocular embryonic fissure fails to close at the 4-week stage. The cyst forms as the ...