Ear-patella-short stature syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Meier-Gorlin syndrome
Number of Symptoms 86
OrphanetNr: 2554
OMIM Id: 224690
613800
613803
613804
613805
ICD-10: Q87.1
UMLs: C1868684
MeSH: C538012
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 42 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Branchial arch or oral-acral syndrome
 -Rare developmental defect during embryogenesis
Genetic branchial arch or oral-acral syndrome
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Microcephalic primordial dwarfism
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Patellar dysostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0010458) Female pseudohermaphroditism Frequent [Orphanet] 17 / 7739
2
 (HPO:0000064) Hypoplastic labia minora 7 / 7739
3
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
4
 (HPO:0000028) Cryptorchidism 347 / 7739
5
 (HPO:0000049) Shawl scrotum 31 / 7739
6
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
7
 (HPO:0000057) Clitoromegaly 30 / 7739
8
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
9
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
10
 (HPO:0000691) Microdontia 104 / 7739
11
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
12
 (HPO:0012471) Thick vermilion border Occasional [Orphanet] 115 / 7739
13
 (HPO:0002007) Frontal bossing 366 / 7739
14
 (HPO:0000175) Cleft palate 349 / 7739
15
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
16
 (HPO:0000327) Hypoplasia of the maxilla Frequent [Orphanet] 129 / 7739
17
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
18
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
19
 (HPO:0001363) Craniosynostosis Frequent [Orphanet] 132 / 7739
20
 (HPO:0000347) Micrognathia 426 / 7739
21
 (HPO:0000581) Blepharophimosis 197 / 7739
22
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
23
 (HPO:0000527) Long eyelashes 46 / 7739
24
 (HPO:0000237) Small anterior fontanelle 10 / 7739
25
 (HPO:0000218) High palate 356 / 7739
26
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
27
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
28
 (HPO:0000486) Strabismus 576 / 7739
29
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
30
 (HPO:0008551) Microtia 98 / 7739
31
 (HPO:0000376) Incomplete partition of the cochlea type II 5 / 7739
32
 (HPO:0000372) Abnormality of the auditory canal Very frequent [Orphanet] 49 / 7739
33
 (HPO:0000369) Low-set ears 372 / 7739
34
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 67 / 7739
35
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
36
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
37
 (HPO:0001249) Intellectual disability 1089 / 7739
38
 (HPO:0003187) Breast hypoplasia 17 / 7739
39
 (HPO:0100783) Breast aplasia Occasional [Orphanet] 19 / 7739
40
 (HPO:0002970) Genu varum 60 / 7739
41
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
42
 (HPO:0003100) Slender long bone Very frequent [Orphanet] 45 / 7739
43
 (HPO:0006591) Absent glenoid fossa 1 / 7739
44
 (HPO:0004279) Short palm 323 / 7739
45
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
46
 (HPO:0000773) Short ribs 70 / 7739
47
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
48
 (HPO:0000768) Pectus carinatum 136 / 7739
49
 (HPO:0003045) Abnormality of the patella Frequent [Orphanet] 33 / 7739
50
 (HPO:0200055) Small hand 71 / 7739
51
 (HPO:0001388) Joint laxity 117 / 7739
52
 (HPO:0001762) Talipes equinovarus 309 / 7739
53
 (HPO:0006628) Absent sternal ossification 6 / 7739
54
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
55
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
56
 (HPO:0002937) Hemivertebrae 41 / 7739
57
 (HPO:0003042) Elbow dislocation Occasional [Orphanet] 89 / 7739
58
 (HPO:0006498) Aplasia/Hypoplasia of the patella 10 / 7739
59
 (HPO:0000883) Thin ribs 31 / 7739
60
 (HPO:0002644) Abnormality of pelvic girdle bone morphology 31 / 7739
61
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
62
 (HPO:0000911) Flat glenoid fossa 4 / 7739
63
 (HPO:0000895) Lateral clavicle hook 11 / 7739
64
 (HPO:0002857) Genu valgum 144 / 7739
65
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
66
 (HPO:0012385) Camptodactyly 113 / 7739
67
 (HPO:0009473) Joint contracture of the hand 84 / 7739
68
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
69
 (HPO:0001623) Breech presentation 16 / 7739
70
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
71
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
72
 (HPO:0003561) Birth length less than 3rd percentile 10 / 7739
73
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
74
 (HPO:0001508) Failure to thrive 454 / 7739
75
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
76
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
77
 (HPO:0001518) Small for gestational age 107 / 7739
78
 (HPO:0000963) Thin skin 96 / 7739
79
 (HPO:0001795) Hyperconvex nail 13 / 7739
80
 (HPO:0002098) Respiratory distress 75 / 7739
81
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
82
 (HPO:0001425) Heterogeneous 132 / 7739
83
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
84
 (HPO:0012745) Short palpebral fissure 47 / 7739
85
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
86
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: