HSS
MCID: HLL001
MIFTS: 48

Hallermann-Streiff Syndrome (HSS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hallermann-Streiff Syndrome

MalaCards integrated aliases for Hallermann-Streiff Syndrome:

Name: Hallermann-Streiff Syndrome 56 12 74 52 58 73 29 13 15 39
Francois Dyscephalic Syndrome 56 12 74 52 58 73
Hallermann's Syndrome 12 43 71
Hss 56 52 73
Oculomandibulofacial Syndrome 52 58
Hallermann Streiff Francois Syndrome 52
François Dyscephalic Syndrome 52
Hallerman - Streiff Syndrome 12
Hallermann Streiff Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
hallermann-streiff syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
isolated cases

Miscellaneous:
all cases have been sporadic


HPO:

31
hallermann-streiff syndrome:
Inheritance sporadic


Classifications:

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


Summaries for Hallermann-Streiff Syndrome

NIH Rare Diseases : 52 Hallermann-Streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature . Intellectual disability is present in some individuals. Almost all reported cases of the condition appear to have occurred randomly for unknown reasons (sporadically) and are thought to have resulted from a new mutation in the affected individual. Treatment is symptomatic and supportive.

MalaCards based summary : Hallermann-Streiff Syndrome, also known as francois dyscephalic syndrome, is related to skin atrophy and hutchinson-gilford progeria syndrome. An important gene associated with Hallermann-Streiff Syndrome is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Affiliated tissues include skin, bone and eye, and related phenotypes are frontal bossing and alopecia

Disease Ontology : 12 A syndrome that affects growth, cranial development, hair growth and dental development.

OMIM : 56 Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature (Hallermann, 1948; Streiff, 1950; Francois, 1958). Mental retardation is present in a minority of cases (Gorlin et al., 1990). (234100)

UniProtKB/Swiss-Prot : 73 Hallermann-Streiff syndrome: A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Mental retardation is present in a minority of cases.

Wikipedia : 74 Hallermann-Streiff syndrome is a congenital disorder that affects growth, cranial development, hair... more...

Related Diseases for Hallermann-Streiff Syndrome

Diseases in the Hallermann-Streiff Syndrome family:

Hallermann-Streiff-Like Syndrome

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

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 skin atrophy 31.0 ZMPSTE24 GJA1
2 hutchinson-gilford progeria syndrome 30.5 ZMPSTE24 ICMT
3 oculodentodigital dysplasia 29.1 GJC2 GJC1 GJA3 GJA1
4 hallermann-streiff-like syndrome 11.9
5 neurodegeneration with brain iron accumulation 1 11.3
6 hoyeraal hreidarsson syndrome 11.3
7 hypotrichosis simplex 11.3
8 cataract 11.0
9 hypotrichosis 11.0
10 microphthalmia 10.9
11 retinal detachment 10.6
12 sleep apnea 10.6
13 dwarfism 10.6
14 dysostosis 10.5
15 teeth, supernumerary 10.5
16 enophthalmos 10.5
17 hypothyroidism 10.5
18 strabismus 10.5
19 fundus dystrophy 10.5
20 mechanical strabismus 10.5
21 inherited retinal disorder 10.5
22 aniridia 1 10.3
23 cleft palate, isolated 10.3
24 hair whorl 10.3
25 treacher collins syndrome 1 10.3
26 chromosome 2q35 duplication syndrome 10.3
27 teeth present at birth 10.3
28 dermochondrocorneal dystrophy 10.3
29 hemihyperplasia, isolated 10.3
30 mandibuloacral dysplasia with type a lipodystrophy 10.3
31 insulin-like growth factor i 10.3
32 thyrotropin-releasing hormone deficiency 10.3
33 coats disease 10.3
34 adrenomyodystrophy 10.3
35 choanal atresia, posterior 10.3
36 intraocular pressure quantitative trait locus 10.3
37 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
38 pulmonary hypertension 10.3
39 tooth agenesis 10.3
40 organic acidemia 10.3
41 sclerocornea 10.3
42 ptosis 10.3
43 tracheomalacia 10.3
44 sensorineural hearing loss 10.3
45 monocular esotropia 10.3
46 juvenile glaucoma 10.3
47 entropion 10.3
48 mature cataract 10.3
49 heart septal defect 10.3
50 atrial heart septal defect 10.3

Graphical network of the top 20 diseases related to Hallermann-Streiff Syndrome:



Diseases related to Hallermann-Streiff Syndrome

Symptoms & Phenotypes for Hallermann-Streiff Syndrome

Human phenotypes related to Hallermann-Streiff Syndrome:

58 31 (show top 50) (show all 96)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
3 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
4 reduced bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004349
5 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
6 developmental cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000519
7 hypotrichosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001006
8 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
9 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
10 dermal atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0004334
11 short ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000773
12 rib exostoses 58 31 hallmark (90%) Very frequent (99-80%) HP:0000896
13 proportionate short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003508
14 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
15 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
16 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
17 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
18 glossoptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000162
19 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
20 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
21 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
22 increased number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0011069
23 abnormality of the fontanelles or cranial sutures 58 31 frequent (33%) Frequent (79-30%) HP:0000235
24 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
25 sparse eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000653
26 natal tooth 58 31 frequent (33%) Frequent (79-30%) HP:0000695
27 abnormality of hair texture 58 31 frequent (33%) Frequent (79-30%) HP:0010719
28 sparse and thin eyebrow 31 frequent (33%) HP:0000535
29 intellectual disability 58 31 very rare (1%) Occasional (29-5%) HP:0001249
30 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
31 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
32 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
33 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
34 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
35 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
36 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
37 short foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001773
38 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
39 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
40 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
41 small hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0200055
42 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
43 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
44 uveitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000554
45 abdominal situs inversus 58 31 occasional (7.5%) Occasional (29-5%) HP:0003363
46 tracheomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002779
47 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
48 low-set ears 31 HP:0000369
49 pectus excavatum 31 HP:0000767
50 scoliosis 31 HP:0002650

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears

Skeletal Spine:
scoliosis
spina bifida
lordosis
winging of scapula

Head And Neck Mouth:
narrow palate
high-arched palate
microstomia
thin lips
everted lower lip

Head And Neck Head:
microcephaly
brachycephaly
platybasia
scaphocephaly
parietal bossing

Skeletal Skull:
wormian bones
thin calvarium
delayed ossification of sutures
shallow sella turcica
absence of mandibular condyles

Respiratory Nasopharynx:
obstructive sleep apnea

Head And Neck Teeth:
selective tooth agenesis
malocclusion
supernumerary teeth
neonatal teeth
persistence of neonatal teeth

Respiratory Lung:
pulmonary hypertension
pulmonary infections

Skin Nails Hair Skin:
telangiectases
skin atrophy (over nose and scalp sutural areas)
xerosis

Head And Neck Nose:
thin, small pointed nose
nasal cartilage hypoplasia

Skeletal Hands:
thin, gracile metacarpals

Head And Neck Face:
frontal bossing
micrognathia
malar hypoplasia

Head And Neck Eyes:
nystagmus
strabismus
microphthalmia
iris coloboma
blue sclerae
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Neurologic Central Nervous System:
hyperactivity
generalized tonic-clonic seizures
choreoathetosis
mental retardation (15%)

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs
decreased number of sternal ossification centers

Respiratory Airways:
tracheomalacia

Skeletal Limbs:
metaphyseal widening
hyperextensible joints
thin, gracile long bones

Growth Weight:
low birth weight

Growth Height:
proportionate small stature
average male height 155-157 cm
average female height 152 cm

Chest External Features:
funnel chest

Skin Nails Hair Hair:
thin, light hair
hypotrichosis (especially scalp, eyebrows, and eyelashes)

Clinical features from OMIM:

234100

MGI Mouse Phenotypes related to Hallermann-Streiff Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 GJA1 GJC1 GJC2 ICMT POLR3A ZMPSTE24
2 nervous system MP:0003631 9.1 GJA1 GJC1 GJC2 ICMT POLR3A ZMPSTE24

Drugs & Therapeutics for Hallermann-Streiff Syndrome

Search Clinical Trials , NIH Clinical Center for Hallermann-Streiff Syndrome

Cochrane evidence based reviews: hallermann's syndrome

Genetic Tests for Hallermann-Streiff Syndrome

Genetic tests related to Hallermann-Streiff Syndrome:

# Genetic test Affiliating Genes
1 Hallermann-Streiff Syndrome 29

Anatomical Context for Hallermann-Streiff Syndrome

MalaCards organs/tissues related to Hallermann-Streiff Syndrome:

40
Skin, Bone, Eye, Heart, Brain, Liver, Tongue

Publications for Hallermann-Streiff Syndrome

Articles related to Hallermann-Streiff Syndrome:

(show top 50) (show all 163)
# Title Authors PMID Year
1
Hallermann-Streiff syndrome: a case review. 61 56
15347328 2004
2
Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. 61 56
8585575 1995
3
Congenital heart defect in a patient with the Hallermann-Streiff syndrome. 61 56
7864053 1994
4
Hallermann-Streiff syndrome: a review. 61 56
1776643 1991
5
Congenital cataracts in mother, sister, and son of a patient with Hallermann-Streiff syndrome: coincidence or clue? 61 56
1776644 1991
6
Radiological findings in Hallermann-Streiff syndrome: report of five cases and a review of the literature. 61 56
1776646 1991
7
Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome. 61 56
1776647 1991
8
Tracheomalacia in Hallermann-Streiff syndrome. 61 56
1776648 1991
9
Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia? 61 56
1663704 1991
10
Francois' dyscephalic syndrome. 61 56
6756501 1982
11
Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality. 61 56
6999913 1980
12
Hallermann-Streiff syndrome. Clinical and prognostic considerations. 61 56
5474755 1970
13
Hallermann-Streiff syndrome. 61 56
5755729 1968
14
Hallermann-Streiff syndrome, a dyscephaly with congenital cataracts and hypotrichosis. 61 56
13821451 1960
15
[Francois' syndrome: 5 cases]. 56
828926 1976
16
DYSCEPHALIA OCULO-MANDIBULO-FACIALIS; TWO CASES IN WHICH THE CHROMOSOMES WERE STUDIED. 56
14235296 1964
17
[On 2 cases of cranial dysostosis with "bird head"]. 56
13951503 1962
18
Further contributions to the study of the syndrome of Hallermann and Streiff. (Congenital cataract with "bird's face"). 56
14487806 1962
19
[Francois's dyscephalic syndrome]. 56
13876736 1961
20
A new syndrome; dyscephalia with bird face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia, and congenital cataract. 56
13582329 1958
21
[Mandibulofacial dysmorphia with ocular abnormalities]. 56
15440024 1950
22
Hallermann-Streiff syndrome with uncommon ocular features, ultrasound biomicroscopy and optical coherence tomography findings: A case report. 61
31804366 2019
23
Unsolved recognizable patterns of human malformation: Challenges and opportunities. 61
30580485 2018
24
Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome. 61
30580479 2018
25
Diagnosis and Innovative Multidisciplinary Management of Hallermann-Streiff Syndrome: 20-Year Follow-Up of a Patient. 61
29578805 2018
26
Hallermann-Streiff Syndrome: Difficulty in airway increases with increasing age. 61
29929164 2018
27
Hallermann Streiff syndrome: 'Bird faced' but not 'bird brained'. 61
29692493 2018
28
Congenital Abnormalities of the Temporomandibular Joint. 61
29153239 2018
29
EXUDATIVE RETINAL DETACHMENT CAUSED BY A CHOROIDAL NEOVASCULAR MEMBRANE IN HALLERMANN-STREIFF SYNDROME. 61
27648586 2018
30
Hallermann-Streiff syndrome with bilateral microphthalmia, pupillary membranes and cataract absorption. 61
28730099 2017
31
Syndromes with supernumerary teeth. 61
27250821 2016
32
Brown-McLean Syndrome in a Patient with Hallermann-Streiff Syndrome. 61
26865807 2016
33
Complex Cases in Pediatric Cataract. 61
27043394 2016
34
Treatment of the nasal abnormalities of Hallermann-Streiff syndrome by lipofilling. 61
26194770 2015
35
Hallermann-Streiff syndrome with cutaneous manifestations. 61
24168356 2015
36
Comprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth. 61
25966733 2015
37
Generalized odontodysplasia in a 5-year-old patient with Hallermann-Streiff syndrome: clinical aspects, cone beam computed tomography findings, and conservative clinical approach. 61
25047934 2014
38
[Progress of temporomandibular joint prosthesis]. 61
25241552 2014
39
Hallermann-streiff syndrome. 61
24082185 2013
40
Hallermann-Streiff syndrome without cataract: case report from Kosova. 61
24601178 2013
41
Bilateral posterior semicircular canal dehiscence in the setting of Hallermann-Streiff syndrome. 61
22996707 2012
42
Gap junctions in inherited human disorders of the central nervous system. 61
21871435 2012
43
Difficult intubation in an infant with Hallermann-Streiff syndrome-easy with Airtraq laryngoscope. 61
22486910 2012
44
Orodental findings in Hallermann-Streiff syndrome. 61
22842271 2012
45
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. 61
22570643 2011
46
Mid-diaphyseal Endosteal Thickening With Subsequent Medullary Narrowing in a Patient With Hallermann-Streiff Syndrome. 61
22393346 2011
47
Reproductive success in patients with Hallermann-Streiff syndrome. 61
21815247 2011
48
Hallermann-Streiff syndrome patient treated with removable prosthesis: a clinical report. 61
21821160 2011
49
Natal teeth in an infant with congenital hypothyroidism. 61
22048606 2011
50
Hallermann-Streiff syndrome: case report and literature review. 61
21516279 2011

Variations for Hallermann-Streiff Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Hallermann-Streiff Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 GJA1 p.Arg76His VAR_058997 rs267606844

Expression for Hallermann-Streiff Syndrome

Search GEO for disease gene expression data for Hallermann-Streiff Syndrome.

Pathways for Hallermann-Streiff Syndrome

Pathways related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 GJC2 GJC1 GJA3 GJA1
2
Show member pathways
12.33 GJC2 GJC1 GJA3 GJA1
3
Show member pathways
11.84 GJC1 GJA3 GJA1
4
Show member pathways
11.75 GJC2 GJC1 GJA3 GJA1
5
Show member pathways
10.92 GJC2 GJC1 GJA3 GJA1

GO Terms for Hallermann-Streiff Syndrome

Cellular components related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.62 ZMPSTE24 ICMT GJC1 GJA1
2 cell junction GO:0030054 9.46 GJC2 GJC1 GJA3 GJA1
3 intercalated disc GO:0014704 9.26 GJC1 GJA1
4 gap junction GO:0005921 9.26 GJC2 GJC1 GJA3 GJA1
5 connexin complex GO:0005922 8.92 GJC2 GJC1 GJA3 GJA1

Biological processes related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.62 GJC2 GJC1 GJA3 GJA1
2 cell-cell signaling GO:0007267 9.58 GJC2 GJC1 GJA1
3 visual perception GO:0007601 9.54 GJC1 GJA3 CRYAA
4 atrial cardiac muscle cell action potential GO:0086014 9.26 GJC1 GJA1
5 gap junction assembly GO:0016264 9.16 GJC1 GJA1
6 cell communication by electrical coupling GO:0010644 8.96 GJC2 GJA1
7 cell communication GO:0007154 8.92 GJC2 GJC1 GJA3 GJA1

Molecular functions related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction hemi-channel activity GO:0055077 9.16 GJA3 GJA1
2 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJC2 GJA1
3 gap junction channel activity GO:0005243 8.8 GJC2 GJC1 GJA1

Sources for Hallermann-Streiff 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
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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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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