Microphthalmia with limb anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: ANOPHTHALMIA-SYNDACTYLY
OAS
waardenburg anophthalmia syndrome
ophthalmoacromelic syndrome
Anophthalmia-syndactyly syndrome
Number of Symptoms 72
OrphanetNr: 1106
OMIM Id: 206920
ICD-10: Q11.2
Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 30 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
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
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
2
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
3
 (HPO:0000534) Abnormality of the eyebrow Very frequent [Orphanet] 39 / 7739
4
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
5
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
6
 (HPO:0000568) Microphthalmia 183 / 7739
7
 (HPO:0000278) Retrognathia 100 / 7739
8
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
9
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
10
 (HPO:0000175) Cleft palate 349 / 7739
11
 (HPO:0005280) Depressed nasal bridge 381 / 7739
12
 (HPO:0000528) Anophthalmia 42 / 7739
13
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
14
 (HPO:0003196) Short nose 264 / 7739
15
 (HPO:0000218) High palate 356 / 7739
16
 (HPO:0010650) Hypoplasia of the premaxilla Occasional [Orphanet] 39 / 7739
17
 (HPO:0011220) Prominent forehead 137 / 7739
18
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
19
 (HPO:0000454) Flared nostrils 11 / 7739
20
 (HPO:0002002) Deep philtrum 42 / 7739
21
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
22
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
23
 (HPO:0000369) Low-set ears 372 / 7739
24
 (HPO:0001249) Intellectual disability 1089 / 7739
25
 (HPO:0005867) Fused fourth and fifth metacarpals 3 / 7739
26
 (HPO:0002982) Tibial bowing 36 / 7739
27
 (HPO:0100240) Synostosis of joints Very frequent [Orphanet] 11 / 7739
28
 (HPO:0002827) Hip dislocation 94 / 7739
29
 (HPO:0012165) Oligodactyly 18 / 7739
30
 (HPO:0001830) Postaxial foot polydactyly Occasional [Orphanet] 37 / 7739
31
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
32
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
33
 (HPO:0003038) Fibular hypoplasia 30 / 7739
34
 (HPO:0001215) Camptodactyly of 2nd-5th fingers 8 / 7739
35
 (HPO:0001850) Abnormality of the tarsal bones Frequent [Orphanet] 40 / 7739
36
 (HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
37
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
38
 (HPO:0001762) Talipes equinovarus 309 / 7739
39
 (HPO:0002814) Abnormality of the lower limb Very frequent [Orphanet] 23 / 7739
40
 (HPO:0009115) Aplasia/hypoplasia involving the skeleton Frequent [Orphanet] 7 / 7739
41
 (HPO:0001849) Foot oligodactyly 9 / 7739
42
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
43
 (HPO:0001180) Hand oligodactyly 17 / 7739
44
 (HPO:0004684) Talipes valgus Occasional [Orphanet] 28 / 7739
45
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
46
 (HPO:0001161) Hand polydactyly Frequent [Orphanet] 71 / 7739
47
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
48
 (HPO:0002991) Abnormality of the fibula Frequent [Orphanet] 49 / 7739
49
 (HPO:0005048) Synostosis of carpal bones Very frequent [Orphanet] 39 / 7739
50
 (HPO:0009380) Aplasia of the fingers Frequent [Orphanet] 51 / 7739
51
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
52
 (HPO:0100259) Postaxial polydactyly 85 / 7739
53
 (HPO:0001852) Sandal gap Very frequent [Orphanet] 63 / 7739
54
 (HPO:0001159) Syndactyly 140 / 7739
55
 (HPO:0002992) Abnormality of the tibia Frequent [Orphanet] 51 / 7739
56
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
57
 (HPO:0008897) Postnatal growth retardation 113 / 7739
58
 (HPO:0001595) Abnormality of the hair 89 / 7739
59
 (HPO:0005293) Venous insufficiency Occasional [Orphanet] 27 / 7739
60
 (HPO:0001626) Abnormality of the cardiovascular system 73 / 7739
61
 (HPO:0040065) Abnormal morphology of bones of the upper limbs Very frequent [Orphanet] 25 / 7739
62
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
63
 (OMIM) Eyelashes normal 3 / 7739
64
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
65
 (HPO:0012443) Abnormality of brain morphology Occasional [Orphanet] 45 / 7739
66
 (HPO:0012745) Short palpebral fissure 47 / 7739
67
 (OMIM) Small orbits 2 / 7739
68
 (OMIM) Normal eyebrows and eyelashes 2 / 7739
69
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
70
 (OMIM) Normal eyebrows 1 / 7739
71
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
72
 (OMIM) Inferior vena cava interruption with azygos continuation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 5 children of 2 different families with consanguineous parents, Richieri-Costa et al. (1983) described the association of bilateral (in 4) or unilateral (in 1) clinical anophthalmia with multiple other congenital abnormalities, mainly in the distal parts of ...
Molecular genetics OMIM In 3 families with microphthalmia and limb anomalies (MLA) mapping to chromosome 14q24.1-q24.2, Okada et al. (2011) analyzed 14 candidate genes and identified homozygosity for a nonsense and 2 different splice site mutations in the SMOC1 gene, respectively ...