CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 65
OrphanetNr:
OMIM Id: 218649
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:0000033) Ambiguous genitalia, male 9 / 7739
2
 (HPO:0000062) Ambiguous genitalia 74 / 7739
3
 (HPO:0000076) Vesicoureteral reflux 94 / 7739
4
 (HPO:0000126) Hydronephrosis 119 / 7739
5
 (HPO:0000028) Cryptorchidism 347 / 7739
6
 (HPO:0000054) Micropenis 257 / 7739
7
 (HPO:0000047) Hypospadias 250 / 7739
8
 (HPO:0000347) Micrognathia 426 / 7739
9
 (HPO:0000233) Thin vermilion border 124 / 7739
10
 (HPO:0000581) Blepharophimosis 197 / 7739
11
 (HPO:0000286) Epicanthus 371 / 7739
12
 (HPO:0011324) Multiple suture craniosynostosis 22 / 7739
13
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
14
 (HPO:0000316) Hypertelorism 644 / 7739
15
 (HPO:0000343) Long philtrum 262 / 7739
16
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
17
 (HPO:0003196) Short nose 264 / 7739
18
 (HPO:0001363) Craniosynostosis 132 / 7739
19
 (HPO:0002000) Short columella 11 / 7739
20
 (HPO:0000319) Smooth philtrum 72 / 7739
21
 (HPO:0000243) Trigonocephaly 40 / 7739
22
 (HPO:0000175) Cleft palate 349 / 7739
23
 (HPO:0000262) Turricephaly 38 / 7739
24
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
25
 (HPO:0011800) Midface retrusion 221 / 7739
26
 (HPO:0000268) Dolichocephaly 144 / 7739
27
 (HPO:0000601) Hypotelorism 83 / 7739
28
 (HPO:0000272) Malar flattening 277 / 7739
29
 (HPO:0005326) Hypoplastic philtrum 4 / 7739
30
 (HPO:0000508) Ptosis 459 / 7739
31
 (HPO:0000486) Strabismus 576 / 7739
32
 (HPO:0000402) Stenosis of the external auditory canal 22 / 7739
33
 (HPO:0000369) Low-set ears 372 / 7739
34
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
35
 (HPO:0008551) Microtia 98 / 7739
36
 (HPO:0010864) Intellectual disability, severe 120 / 7739
37
 (HPO:0001276) Hypertonia 317 / 7739
38
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
39
 (HPO:0006610) Wide intermamillary distance 46 / 7739
40
 (HPO:0002558) Supernumerary nipple 40 / 7739
41
 (HPO:0000768) Pectus carinatum 136 / 7739
42
 (HPO:0002828) Multiple joint contractures 16 / 7739
43
 (HPO:0001238) Slender finger 23 / 7739
44
 (HPO:0000767) Pectus excavatum 244 / 7739
45
 (HPO:0006184) Decreased palmar creases 5 / 7739
46
 (HPO:0012385) Camptodactyly 113 / 7739
47
 (HPO:0000774) Narrow chest 167 / 7739
48
 (HPO:0009473) Joint contracture of the hand 84 / 7739
49
 (HPO:0001188) Hand clenching 9 / 7739
50
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
51
 (HPO:0011968) Feeding difficulties 240 / 7739
52
 (HPO:0001537) Umbilical hernia 206 / 7739
53
 (HPO:0004797) Multiple small bowel atresias 1 / 7739
54
 (HPO:0002566) Intestinal malrotation 89 / 7739
55
 (HPO:0000023) Inguinal hernia 181 / 7739
56
 (HPO:0001539) Omphalocele 102 / 7739
57
 (HPO:0001076) Glabellar hemangioma 4 / 7739
58
 (HPO:0001629) Ventricular septal defect 316 / 7739
59
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
60
 (OMIM) Micrognathia, mild 8 / 7739
61
 (OMIM) Absent REM sleep 1 / 7739
62
 (OMIM) Long, hypoplastic philtrum 1 / 7739
63
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
64
 (HPO:0007099) Arnold-Chiari type I malformation 18 / 7739
65
 (OMIM) Neutral palpebral fissures 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 2 brothers born of nonconsanguineous parents, Lin and Gettig (1990) found midline craniosynostosis, agenesis of the corpus callosum, severe mental retardation, unusual face (small downslanting palpebral fissures, ptosis, strabismus, long hypoplastic philtrum, short columella and thin lips), ...