MEIER-GORLIN SYNDROME 3

General Information (adopted from Orphanet):

Synonyms, Signs: MGORS3
Number of Symptoms 40
OrphanetNr:
OMIM Id: 613803
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:0000046) Scrotal hypoplasia 54 / 7739
2
 (HPO:0008665) Clitoral hypertrophy 10 / 7739
3
 (HPO:0000028) Cryptorchidism 347 / 7739
4
 (HPO:0012471) Thick vermilion border 115 / 7739
5
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
6
 (HPO:0000160) Narrow mouth 188 / 7739
7
 (HPO:0000308) Microretrognathia 78 / 7739
8
 (HPO:0000252) Microcephaly 832 / 7739
9
 (HPO:0000325) Triangular face 91 / 7739
10
 (HPO:0000347) Micrognathia 426 / 7739
11
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
12
 (HPO:0008551) Microtia 98 / 7739
13
 (HPO:0003187) Breast hypoplasia 17 / 7739
14
 (HPO:0006628) Absent sternal ossification 6 / 7739
15
 (HPO:0003100) Slender long bone 45 / 7739
16
 (HPO:0002970) Genu varum 60 / 7739
17
 (HPO:0002812) Coxa vara 58 / 7739
18
 (HPO:0006498) Aplasia/Hypoplasia of the patella 10 / 7739
19
 (HPO:0000773) Short ribs 70 / 7739
20
 (HPO:0000774) Narrow chest 167 / 7739
21
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
22
 (HPO:0010306) Short thorax 10 / 7739
23
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
24
 (HPO:0011431) Fetal fifth finger clinodactyly 14 / 7739
25
 (HPO:0011968) Feeding difficulties 240 / 7739
26
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
27
 (HPO:0004322) Short stature 1232 / 7739
28
 (HPO:0003561) Birth length less than 3rd percentile 10 / 7739
29
 (HPO:0001508) Failure to thrive 454 / 7739
30
 (HPO:0002094) Dyspnea 132 / 7739
31
 (HPO:0006532) Recurrent pneumonia 48 / 7739
32
 (OMIM) Abnormal humeral epiphyses with flat metaphyses 1 / 7739
33
 (OMIM) Abnormal femoral epiphyses with flat metaphyses 1 / 7739
34
 (OMIM) Feeding problems in early infancy 3 / 7739
35
 (OMIM) Dyspnea secondary to thorax morphology 1 / 7739
36
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
37
 (OMIM) Abnormal tibial epiphyses 1 / 7739
38
 (OMIM) Birth weight less than 3rd percentile 6 / 7739
39
 (OMIM) Abnormally formed ears 2 / 7739
40
 (OMIM) Frontal circular lacuna 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lacombe et al. (1994) reported 5 patients, including a brother and sister, who had short stature, very small external ears, cryptorchidism in males, and various bone defects including absent or nonossified patellae, femoral asymmetry, coxa valga, abnormal ribs, ...
Molecular genetics OMIM In 3 sibs with Meier-Gorlin syndrome from a consanguineous Turkish Kurd family reported by Lacombe et al. (1994), Bicknell et al. (2011) identified compound heterozygosity for a 2-bp deletion and a missense mutation in the ORC6 gene (607213.0001 ...