MEIER-GORLIN SYNDROME 4

General Information (adopted from Orphanet):

Synonyms, Signs: MGORS4
Number of Symptoms 30
OrphanetNr:
OMIM Id: 613804
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:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
3
(HPO:0000179) Thick lower lip vermilion 72 / 7739
4
(HPO:0000252) Microcephaly 832 / 7739
5
(HPO:0000347) Micrognathia 426 / 7739
6
(HPO:0012471) Thick vermilion border 115 / 7739
7
(HPO:0000160) Narrow mouth 188 / 7739
8
(HPO:0008551) Microtia 98 / 7739
9
(HPO:0000369) Low-set ears 372 / 7739
10
(HPO:0003187) Breast hypoplasia 17 / 7739
11
(HPO:0000895) Lateral clavicle hook 11 / 7739
12
(HPO:0006443) Patellar aplasia 14 / 7739
13
(HPO:0002816) Genu recurvatum 30 / 7739
14
(HPO:0003100) Slender long bone 45 / 7739
15
(HPO:0002750) Delayed skeletal maturation 250 / 7739
16
(HPO:0011968) Feeding difficulties 240 / 7739
17
(HPO:0001508) Failure to thrive 454 / 7739
18
(HPO:0003561) Birth length less than 3rd percentile 10 / 7739
19
(HPO:0001511) Intrauterine growth retardation 358 / 7739
20
(HPO:0004322) Short stature 1232 / 7739
21
(HPO:0002097) Emphysema 40 / 7739
22
(OMIM) Birth weight less than 3rd percentile 6 / 7739
23
(MedDRA:10010456) Congenital emphysema 2 / 7739
24
(OMIM) Intellect high (in some patients) 1 / 7739
25
(OMIM) Abnormally formed ears 2 / 7739
26
(OMIM) No mental retardation 5 / 7739
27
(OMIM) Respiratory problems 2 / 7739
28
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
(OMIM) Abnormal glenoid fossa 1 / 7739
30
(OMIM) Feeding difficulties in early infancy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Feingold (2002) reported 4 patients with Meier-Gorlin syndrome from 2 families. All 4 patients had microcephaly but none had mental retardation, and some were of high intellect. On radiography, all 4 patients had absent or hypoplastic patella, abnormal ...
Molecular genetics OMIM Bicknell et al. (2011) analyzed the candidate gene CDT1 in patients with an established diagnosis of Meier-Gorlin syndrome and identified compound heterozygous mutations (see, e.g., 605525.0001-605525.0004) in 7 patients from 5 families, including 3 sibs from 1 of ...