MEIER-GORLIN SYNDROME 5

General Information (adopted from Orphanet):

Synonyms, Signs: MGORS5
Number of Symptoms 46
OrphanetNr:
OMIM Id: 613805
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:0000054) Micropenis 257 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0011819) Submucous cleft soft palate 12 / 7739
4
 (HPO:0012471) Thick vermilion border 115 / 7739
5
 (HPO:0005487) Prominent metopic ridge 28 / 7739
6
 (HPO:0000343) Long philtrum 262 / 7739
7
 (HPO:0000252) Microcephaly 832 / 7739
8
 (HPO:0000185) Cleft soft palate 18 / 7739
9
 (HPO:0000325) Triangular face 91 / 7739
10
 (HPO:0000176) Submucous cleft hard palate 19 / 7739
11
 (HPO:0000347) Micrognathia 426 / 7739
12
 (HPO:0000691) Microdontia 104 / 7739
13
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
14
 (HPO:0008551) Microtia 98 / 7739
15
 (HPO:0000385) Small earlobe 9 / 7739
16
 (HPO:0000369) Low-set ears 372 / 7739
17
 (HPO:0001263) Global developmental delay 853 / 7739
18
 (HPO:0001270) Motor delay 322 / 7739
19
 (HPO:0006361) Irregular femoral epiphysis 3 / 7739
20
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
21
 (HPO:0001864) Clinodactyly of the 5th toe 6 / 7739
22
 (HPO:0003100) Slender long bone 45 / 7739
23
 (HPO:0006443) Patellar aplasia 14 / 7739
24
 (HPO:0003090) Hypoplasia of the capital femoral epiphysis 15 / 7739
25
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
26
 (HPO:0003042) Elbow dislocation 89 / 7739
27
 (HPO:0011431) Fetal fifth finger clinodactyly 14 / 7739
28
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
29
 (HPO:0011968) Feeding difficulties 240 / 7739
30
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
31
 (HPO:0004322) Short stature 1232 / 7739
32
 (HPO:0003561) Birth length less than 3rd percentile 10 / 7739
33
 (HPO:0001508) Failure to thrive 454 / 7739
34
 (OMIM) Finger hypermobility 1 / 7739
35
 (OMIM) Elbow hypermobility 1 / 7739
36
 (OMIM) Birth weight less than 3rd percentile 6 / 7739
37
 (OMIM) Hypoplastic and irregular tibial epiphyses 1 / 7739
38
 (OMIM) Hypoplastic and irregular femoral epiphyses 1 / 7739
39
 (OMIM) Feeding problems in early infancy 3 / 7739
40
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
41
 (OMIM) Absent helices, bilaterally 1 / 7739
42
 (OMIM) Gastroesophageal reflux in early infancy 1 / 7739
43
 (OMIM) Small external auditory meatus 2 / 7739
44
 (OMIM) Knee hypermobility 1 / 7739
45
 (OMIM) Shoulder hypermobility 1 / 7739
46
 (OMIM) Mild psychomotor retardation 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bongers et al. (2001) described a 4.5-year-old boy, born of nonconsanguineous Gypsy parents from France, who had weight, length, and head circumference all below the third centile at birth; he also had bilateral microtia, a small triangular face, ...
Molecular genetics OMIM In a 7-year-old Gypsy boy with Meier-Gorlin syndrome who was originally reported by Bongers et al. (2001), Bicknell et al. (2011) identified homozygosity for a missense mutation in the CDC6 gene (602627.0001).