TBHS
MCID: HYP682
MIFTS: 27

Hypertelorism, Teebi Type (TBHS)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hypertelorism, Teebi Type

MalaCards integrated aliases for Hypertelorism, Teebi Type:

Name: Hypertelorism, Teebi Type 57 53 59
Brachycephalofrontonasal Dysplasia 57 53 59 6 73
Craniofrontonasal Dysplasia, Teebi Type 53 59
Teebi Hypertelorism Syndrome 53 59
Teebi Syndrome 59 73
Tbhs 57

Characteristics:

Orphanet epidemiological data:

59
hypertelorism, teebi type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypertelorism, teebi type:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypertelorism, Teebi Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1519Disease definitionTeebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).Visit the Orphanet disease page for more resources.

MalaCards based summary : Hypertelorism, Teebi Type, also known as brachycephalofrontonasal dysplasia, is related to lubani-al saleh-teebi syndrome and elliott ludman teebi syndrome. An important gene associated with Hypertelorism, Teebi Type is SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like). Affiliated tissues include kidney and bone, and related phenotypes are hypertelorism and low-set ears

Description from OMIM: 145420

Related Diseases for Hypertelorism, Teebi Type

Diseases related to Hypertelorism, Teebi Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lubani-al saleh-teebi syndrome 12.1
2 elliott ludman teebi syndrome 12.1
3 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 11.1
4 hypergonadotropic hypogonadism and partial alopecia 11.0
5 acrofacial dysostosis, kennedy-teebi type 11.0
6 tetralogy of fallot 10.2
7 atrioventricular block 10.2
8 hypertelorism 10.1
9 craniosynostosis 10.0

Graphical network of the top 20 diseases related to Hypertelorism, Teebi Type:



Diseases related to Hypertelorism, Teebi Type

Symptoms & Phenotypes for Hypertelorism, Teebi Type

Symptoms via clinical synopsis from OMIM:

57
Eyes:
hypertelorism
mild antimongoloid slant

G U:
shawl scrotum

Limbs:
slightly small, broad hands
mild interdigital webbing

Facies:
short nose
prominent forehead
broad and depressed nasal bridge

Hair:
widow's peak
heavy and broad eyebrows


Clinical features from OMIM:

145420

Human phenotypes related to Hypertelorism, Teebi Type:

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
3 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
4 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
5 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
6 abnormality of the helix 59 32 frequent (33%) Frequent (79-30%) HP:0011039
7 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
8 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
9 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
10 thick eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0000574
11 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
12 prominent forehead 59 32 frequent (33%) Frequent (79-30%) HP:0011220
13 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
14 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
15 ectopic kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000086
16 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
17 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
18 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
19 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
20 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
21 short toe 59 32 frequent (33%) Frequent (79-30%) HP:0001831
22 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
23 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
24 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
25 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
26 round face 59 32 frequent (33%) Frequent (79-30%) HP:0000311
27 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
28 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
29 highly arched eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002553
30 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
31 female pseudohermaphroditism 59 32 occasional (7.5%) Occasional (29-5%) HP:0010458
32 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
33 preauricular pit 59 32 frequent (33%) Frequent (79-30%) HP:0004467
34 advanced eruption of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0006288
35 oral cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0000202
36 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
37 shawl scrotum 59 32 frequent (33%) Frequent (79-30%) HP:0000049
38 widow's peak 59 32 frequent (33%) Frequent (79-30%) HP:0000349
39 frontal bossing 32 HP:0002007
40 depressed nasal bridge 32 HP:0005280
41 broad palm 32 HP:0001169
42 chin dimple 59 Occasional (29-5%)
43 dimple chin 32 occasional (7.5%) HP:0010751

Drugs & Therapeutics for Hypertelorism, Teebi Type

Search Clinical Trials , NIH Clinical Center for Hypertelorism, Teebi Type

Genetic Tests for Hypertelorism, Teebi Type

Anatomical Context for Hypertelorism, Teebi Type

MalaCards organs/tissues related to Hypertelorism, Teebi Type:

41
Kidney, Bone

Publications for Hypertelorism, Teebi Type

Articles related to Hypertelorism, Teebi Type:

# Title Authors Year
1
Teebi hypertelorism syndrome (brachycephalofrontonasal dysplasia) in a U.S. family. ( 1867268 )
1991

Variations for Hypertelorism, Teebi Type

ClinVar genetic disease variations for Hypertelorism, Teebi Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPECC1L NM_015330.4(SPECC1L): c.1198_1203del (p.Ile400_His401del) deletion Pathogenic GRCh37 Chromosome 22, 24718146: 24718151
2 SPECC1L NM_015330.4(SPECC1L): c.1198_1203del (p.Ile400_His401del) deletion Pathogenic GRCh38 Chromosome 22, 24322178: 24322183
3 SPECC1L NM_001145468.3(SPECC1L): c.1260G> C (p.Glu420Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 24718208: 24718208
4 SPECC1L NM_001145468.3(SPECC1L): c.1260G> C (p.Glu420Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 24322240: 24322240

Expression for Hypertelorism, Teebi Type

Search GEO for disease gene expression data for Hypertelorism, Teebi Type.

Pathways for Hypertelorism, Teebi Type

GO Terms for Hypertelorism, Teebi Type

Sources for Hypertelorism, Teebi Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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