MEIER-GORLIN SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: MGORS1
MEIER-GORLIN SYNDROME
MICROTIA, ABSENT PATELLAE, MICROGNATHIA SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME
EPS
Number of Symptoms 64
OrphanetNr:
OMIM Id: 224690
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000049) Shawl scrotum 31 / 7739
2
 (HPO:0000054) Micropenis 257 / 7739
3
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
4
 (HPO:0000064) Hypoplastic labia minora 7 / 7739
5
 (HPO:0000057) Clitoromegaly 30 / 7739
6
 (HPO:0000028) Cryptorchidism 347 / 7739
7
 (HPO:0000218) High palate 356 / 7739
8
 (HPO:0000691) Microdontia 104 / 7739
9
 (HPO:0002007) Frontal bossing 366 / 7739
10
 (HPO:0000252) Microcephaly 832 / 7739
11
 (HPO:0012471) Thick vermilion border 115 / 7739
12
 (HPO:0000347) Micrognathia 426 / 7739
13
 (HPO:0000175) Cleft palate 349 / 7739
14
 (HPO:0000527) Long eyelashes 46 / 7739
15
 (HPO:0000160) Narrow mouth 188 / 7739
16
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
17
 (HPO:0000237) Small anterior fontanelle 10 / 7739
18
 (HPO:0000581) Blepharophimosis 197 / 7739
19
 (HPO:0000486) Strabismus 576 / 7739
20
 (HPO:0008551) Microtia 98 / 7739
21
 (HPO:0000376) Incomplete partition of the cochlea type II 5 / 7739
22
 (HPO:0000369) Low-set ears 372 / 7739
23
 (HPO:0000365) Hearing impairment 539 / 7739
24
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
25
 (HPO:0001249) Intellectual disability 1089 / 7739
26
 (HPO:0003187) Breast hypoplasia 17 / 7739
27
 (HPO:0002937) Hemivertebrae 41 / 7739
28
 (HPO:0000895) Lateral clavicle hook 11 / 7739
29
 (HPO:0002857) Genu valgum 144 / 7739
30
 (HPO:0006498) Aplasia/Hypoplasia of the patella 10 / 7739
31
 (HPO:0000773) Short ribs 70 / 7739
32
 (HPO:0006628) Absent sternal ossification 6 / 7739
33
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
34
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
35
 (HPO:0003042) Elbow dislocation 89 / 7739
36
 (HPO:0200055) Small hand 71 / 7739
37
 (HPO:0001762) Talipes equinovarus 309 / 7739
38
 (HPO:0001388) Joint laxity 117 / 7739
39
 (HPO:0000883) Thin ribs 31 / 7739
40
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
41
 (HPO:0012385) Camptodactyly 113 / 7739
42
 (HPO:0000768) Pectus carinatum 136 / 7739
43
 (HPO:0003100) Slender long bone 45 / 7739
44
 (HPO:0001371) Flexion contracture 220 / 7739
45
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
46
 (HPO:0001623) Breech presentation 16 / 7739
47
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
48
 (HPO:0011968) Feeding difficulties 240 / 7739
49
 (HPO:0003561) Birth length less than 3rd percentile 10 / 7739
50
 (HPO:0001508) Failure to thrive 454 / 7739
51
 (HPO:0004322) Short stature 1232 / 7739
52
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
53
 (HPO:0001795) Hyperconvex nail 13 / 7739
54
 (HPO:0000963) Thin skin 96 / 7739
55
 (HPO:0002098) Respiratory distress 75 / 7739
56
 (OMIM) Chest asymmetry 1 / 7739
57
 (OMIM) Blount osteochondritis dissecans 1 / 7739
58
 (OMIM) Coxa valga/vara 1 / 7739
59
 (OMIM) Birth weight less than 3rd percentile 6 / 7739
60
 (OMIM) Aseptic femoral necrosis 1 / 7739
61
 (OMIM) Flat or absent glenoid fossae 1 / 7739
62
 (OMIM) Epiphyseal flattening 1 / 7739
63
 (OMIM) Prominent vasculature (nose and forehead) 1 / 7739
64
 (MedDRA:10010456) Congenital emphysema 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Meier-Gorlin syndrome is a rare autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have ...
Clinical Description OMIM Gorlin et al. (1975) described this condition in a teenaged male in whom microtia, absent patellae, and micrognathia were the significant features. Camptodactyly of the fingers was noted, as well as Blount osteochondritis dissecans and bilateral aseptic necrosis ...
Genotype-Phenotype Correlations OMIM De Munnik et al. (2012) studied 45 patients from 35 families with Meier-Gorlin syndrome, including 27 females and 18 males with ages ranging from 3 months to 47 years, most of whom had previously been reported (Bongers et ...
Molecular genetics OMIM In 2 affected sibs from a consanguineous Saudi Arabian family with a form of microcephalic primordial dwarfism resembling Meier-Gorlin syndrome mapping to chromosome 1p32, Bicknell et al. (2011) identified homozygosity for a missense mutation in the candidate gene ...