Temtamy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION WITH OR WITHOUT CRANIOFACIAL DYSMORPHISM, OCULAR COLOBOMA, OR ABNORMAL CORPUS CALLOSUM
TEMTYS
Temtamy-Shalash syndrome
Craniofacial dysmorphism - coloboma - corpus callosum agenesis
Number of Symptoms 64
OrphanetNr: 1777
OMIM Id: 218340
ICD-10: Q87.8
UMLs: C1857512
MeSH: C536959
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome with corpus callosum agenesis /dysgenesis as a major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000685) Hypoplasia of teeth 12 / 7739
2
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
3
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
4
 (HPO:0002007) Frontal bossing 366 / 7739
5
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
6
 (HPO:0000347) Micrognathia 426 / 7739
7
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
8
 (HPO:0000444) Convex nasal ridge Frequent [Orphanet] 87 / 7739
9
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
10
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
11
 (HPO:0000343) Long philtrum 262 / 7739
12
 (HPO:0000276) Long face Frequent [Orphanet] 109 / 7739
13
 (HPO:0000678) Dental crowding 65 / 7739
14
 (HPO:0002553) Highly arched eyebrow 92 / 7739
15
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
16
 (HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
17
 (HPO:0012471) Thick vermilion border Occasional [Orphanet] 115 / 7739
18
 (HPO:0000506) Telecanthus Occasional [Orphanet] 156 / 7739
19
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
20
 (HPO:0000612) Iris coloboma Very frequent [Orphanet] 116 / 7739
21
 (HPO:0000479) Abnormality of the retina Very frequent [Orphanet] 74 / 7739
22
 (HPO:0000545) Myopia 286 / 7739
23
 (HPO:0000567) Chorioretinal coloboma 26 / 7739
24
 (HPO:0001132) Lens subluxation 13 / 7739
25
 (HPO:0001083) Ectopia lentis 45 / 7739
26
 (HPO:0000369) Low-set ears 372 / 7739
27
 (HPO:0000394) Lop ear 6 / 7739
28
 (HPO:0000377) Abnormality of the pinna 111 / 7739
29
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
30
 (HPO:0001256) Intellectual disability, mild 141 / 7739
31
 (HPO:0001263) Global developmental delay 853 / 7739
32
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
33
 (HPO:0001249) Intellectual disability 1089 / 7739
34
 (HPO:0002970) Genu varum Frequent [Orphanet] 60 / 7739
35
 (HPO:0002827) Hip dislocation 94 / 7739
36
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
37
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
38
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
39
 (HPO:0001885) Short 2nd toe 4 / 7739
40
 (HPO:0001763) Pes planus Frequent [Orphanet] 176 / 7739
41
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
42
 (HPO:0001762) Talipes equinovarus 309 / 7739
43
 (HPO:0001724) Aortic dilatation Frequent [Orphanet] 24 / 7739
44
 (HPO:0001659) Aortic regurgitation 36 / 7739
45
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
46
 (HPO:0001252) Muscular hypotonia 990 / 7739
47
 (HPO:0010547) Muscle flaccidity 466 / 7739
48
 (HPO:0001324) Muscle weakness 859 / 7739
49
 (OMIM) Genua valgum 2 / 7739
50
 (OMIM) 'Key-hole' iris, retina, choroid coloboma 1 / 7739
51
 (HPO:0001273) Abnormality of the corpus callosum 20 / 7739
52
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
53
 (HPO:0003593) Infantile onset 249 / 7739
54
 (OMIM) Thalamic hypoplasia 1 / 7739
55
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
56
 (OMIM) Seizures, early onset 3 / 7739
57
 (OMIM) Bulbous thumbs 1 / 7739
58
 (HPO:0002119) Ventriculomegaly 253 / 7739
59
 (OMIM) Abnormal septum pellucidum 1 / 7739
60
 (OMIM) Reduced white matter 1 / 7739
61
 (OMIM) [DEL]Autistic features 43 / 7739
62
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
63
 (MedDRA:10072883) Brachydactyly 153 / 7739
64
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus (summary by Akizu et al., 2013).
Clinical Description OMIM Among the 6 children of a first-cousin marriage, Temtamy et al. (1991) observed a boy and 2 girls with a syndrome consisting of craniofacial dysmorphism, absent corpus callosum, and iris coloboma. Two of the 3 sibs had aortic ...
Molecular genetics OMIM In 4 Saudi Arabian sibs with mental retardation, early-onset seizures, and variable coloboma and corpus callosum abnormalities, Zahrani et al. (2013) identified a homozygous mutation in the C12ORF57 gene (1A-G; 615140.0001). The mutation was identified by exome sequencing ...