TBSH
MCID: TBS009
MIFTS: 22

Teebi-Shaltout Syndrome (TBSH)

Categories: Bone diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Teebi-Shaltout Syndrome

MalaCards integrated aliases for Teebi-Shaltout Syndrome:

Name: Teebi-Shaltout Syndrome 56 58
Craniofacial Anomalies, Abnormal Hair, Camptodactyly, and Caudal Appendage 56 52
Teebi Shaltout Syndrome 52 71
Tbsh 56

Characteristics:

Orphanet epidemiological data:

58
teebi-shaltout syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
teebi-shaltout syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Teebi-Shaltout Syndrome

OMIM : 56 Teebi-Shaltout syndrome is characterized by slow hair growth, scaphocephaly with prominent forehead, bitemporal depression, absence of primary teeth, camptodactyly, and caudal appendage with sacral dimple (summary by Aldemir et al., 2013). (272950)

MalaCards based summary : Teebi-Shaltout Syndrome, also known as craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage, is related to microphthalmia and ectodermal dysplasia. Affiliated tissues include kidney, bone and skin, and related phenotypes are ventricular septal defect and microcephaly

Related Diseases for Teebi-Shaltout Syndrome

Diseases related to Teebi-Shaltout Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microphthalmia 10.5
2 ectodermal dysplasia 10.5

Symptoms & Phenotypes for Teebi-Shaltout Syndrome

Human phenotypes related to Teebi-Shaltout Syndrome:

31 (show all 43)
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 31 occasional (7.5%) HP:0001629
2 microcephaly 31 occasional (7.5%) HP:0000252
3 cleft palate 31 occasional (7.5%) HP:0000175
4 narrow mouth 31 occasional (7.5%) HP:0000160
5 turricephaly 31 occasional (7.5%) HP:0000262
6 aortic valve stenosis 31 occasional (7.5%) HP:0001650
7 hypertelorism 31 HP:0000316
8 low-set ears 31 HP:0000369
9 pectus excavatum 31 HP:0000767
10 ptosis 31 HP:0000508
11 wide nasal bridge 31 HP:0000431
12 pectus carinatum 31 HP:0000768
13 short stature 31 HP:0004322
14 horseshoe kidney 31 HP:0000085
15 underdeveloped nasal alae 31 HP:0000430
16 smooth philtrum 31 HP:0000319
17 prominent forehead 31 HP:0011220
18 narrow forehead 31 HP:0000341
19 broad nasal tip 31 HP:0000455
20 highly arched eyebrow 31 HP:0002553
21 high, narrow palate 31 HP:0002705
22 metatarsus adductus 31 HP:0001840
23 wide intermamillary distance 31 HP:0006610
24 talipes equinovarus 31 HP:0001762
25 telecanthus 31 HP:0000506
26 wide mouth 31 HP:0000154
27 microphthalmia 31 HP:0000568
28 hydronephrosis 31 HP:0000126
29 rocker bottom foot 31 HP:0001838
30 small earlobe 31 HP:0000385
31 low anterior hairline 31 HP:0000294
32 sparse hair 31 HP:0008070
33 slow-growing hair 31 HP:0002217
34 single transverse palmar crease 31 HP:0000954
35 camptodactyly 31 HP:0012385
36 ureteral stenosis 31 HP:0000071
37 oligodontia 31 HP:0000677
38 syndactyly 31 HP:0001159
39 hypoplastic helices 31 HP:0008589
40 ulnar deviation of the hand 31 HP:0009487
41 scaphocephaly 31 HP:0030799
42 caudal appendage 31 HP:0002825
43 prominent palatine ridges 31 HP:0010291

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
ptosis
telecanthus
bilateral epicanthal folds
microphthalmia (family a)

Chest External Features:
pectus excavatum
pectus carinatum

Growth Height:
short stature

Skin Nails Hair Hair:
sparse hair
slow-growing hair

Head And Neck Teeth:
oligodontia
delayed primary dentition

Skeletal Spine:
caudal appendage

Chest Breasts:
widely spaced nipples

Genitourinary Kidneys:
hydronephrosis (family a)
horseshoe kidneys (rare, family a)

Skeletal Feet:
metatarsus adductus (rare, family a)
vertical talus (rare, family a)
clubfoot (rare, family a)
rocker-bottom feet (rare, family a)

Head And Neck Ears:
low-set ears
dysmorphic ears
underdeveloped helix
small earlobes

Head And Neck Nose:
wide nasal bridge
broad nasal tip
underdeveloped ala nasi

Head And Neck Face:
smooth philtrum
prominent forehead
narrow forehead
low anterior hairline
high-arched eyebrows

Skeletal Hands:
camptodactyly
ulnar deviation of hands
single palmar crease
abnormal palmar creases
syndactyly, 2-3

Head And Neck Head:
scaphocephaly
microcephaly (rare)
abnormal head shape
dolichocephaly (rare)
turricephaly (rare)

Head And Neck Mouth:
prominent palatine ridges
cleft palate (rare)
wide mouth (in some patients)
small mouth (in some patients)
thick frenula
more
Cardiovascular Heart:
ventricular septal defect (rare)
aortic stenosis (rare)

Genitourinary Ureters:
large ureters (family a)
kinked ureters (family a)
ureteral stenosis (family a)

Skin Nails Hair Skin:
reduced sweating

Clinical features from OMIM:

272950

Drugs & Therapeutics for Teebi-Shaltout Syndrome

Search Clinical Trials , NIH Clinical Center for Teebi-Shaltout Syndrome

Genetic Tests for Teebi-Shaltout Syndrome

Anatomical Context for Teebi-Shaltout Syndrome

MalaCards organs/tissues related to Teebi-Shaltout Syndrome:

40
Kidney, Bone, Skin

Publications for Teebi-Shaltout Syndrome

Articles related to Teebi-Shaltout Syndrome:

# Title Authors PMID Year
1
Three patients resembling Teebi-Shaltout syndrome. 61 56
23918592 2013
2
Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage (Teebi-Shaltout syndrome): clinical and autopsy findings. 61 56
8267003 1993
3
Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage. 56
2750786 1989

Variations for Teebi-Shaltout Syndrome

Expression for Teebi-Shaltout Syndrome

Search GEO for disease gene expression data for Teebi-Shaltout Syndrome.

Pathways for Teebi-Shaltout Syndrome

GO Terms for Teebi-Shaltout Syndrome

Sources for Teebi-Shaltout Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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