MEIER-GORLIN SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: MGORS2
Number of Symptoms 33
OrphanetNr:
OMIM Id: 613800
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:0000057) Clitoromegaly 30 / 7739
2
(HPO:0000059) Hypoplastic labia majora 22 / 7739
3
(HPO:0000319) Smooth philtrum 72 / 7739
4
(HPO:0000430) Underdeveloped nasal alae 90 / 7739
5
(HPO:0000268) Dolichocephaly 144 / 7739
6
(HPO:0000160) Narrow mouth 188 / 7739
7
(HPO:0000252) Microcephaly 832 / 7739
8
(HPO:0000347) Micrognathia 426 / 7739
9
(HPO:0008551) Microtia 98 / 7739
10
(HPO:0000377) Abnormality of the pinna 111 / 7739
11
(HPO:0003187) Breast hypoplasia 17 / 7739
12
(HPO:0003100) Slender long bone 45 / 7739
13
(HPO:0002750) Delayed skeletal maturation 250 / 7739
14
(HPO:0001382) Joint hypermobility 231 / 7739
15
(HPO:0006498) Aplasia/Hypoplasia of the patella rare [HPO:skoehler] 10 / 7739
16
(HPO:0011968) Feeding difficulties 240 / 7739
17
(HPO:0002020) Gastroesophageal reflux 101 / 7739
18
(HPO:0004322) Short stature 1232 / 7739
19
(HPO:0001511) Intrauterine growth retardation 358 / 7739
20
(HPO:0003561) Birth length less than 3rd percentile 10 / 7739
21
(HPO:0001508) Failure to thrive 454 / 7739
22
(HPO:0002780) Bronchomalacia 7 / 7739
23
(HPO:0002779) Tracheomalacia 26 / 7739
24
(HPO:0001620) High pitched voice 32 / 7739
25
(OMIM) Feeding problems in early infancy 3 / 7739
26
(OMIM) Respiratory problems 2 / 7739
27
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
(OMIM) Camptodactyly, distal interphalangeal, of second, third, and fourth fingers 1 / 7739
29
(OMIM) Birth weight less than 3rd percentile 6 / 7739
30
(OMIM) Small external auditory meatus 2 / 7739
31
(OMIM) Camptodactyly, proximal interphalangeal, of fifth fingers 1 / 7739
32
(OMIM) Hypoplastic labia majora, mild 1 / 7739
33
(OMIM) Hyperextensible joints, especially elbows and knees 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bongers et al. (2001) reported 5.25-year-old monozygotic twin sisters, born of consanguineous American parents of Acadian/French Creole ancestry, who had intrauterine growth retardation and were noted to be microcephalic at birth. Examination at 5 years of age showed ...
Molecular genetics OMIM Bicknell et al. (2011) analyzed the ORC4 gene in patients with an established diagnosis of Meier-Gorlin syndrome and identified homozygosity for a missense mutation (Y174C; 603056.0001) in the monozygotic twin sisters previously reported by Bongers et al. (2001). ...