HSS
MCID: HLL001
MIFTS: 50

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 57 12 75 53 59 74 29 13 15 40
Francois Dyscephalic Syndrome 57 12 75 53 59 74
Hallermann's Syndrome 12 44 72
Hss 57 53 74
Oculomandibulofacial Syndrome 53 59
Hallermann Streiff Francois Syndrome 53
François Dyscephalic Syndrome 53
Hallerman - Streiff Syndrome 12
Hallermann Streiff Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
hallermann-streiff syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
all cases have been sporadic


HPO:

32
hallermann-streiff syndrome:
Inheritance sporadic


Classifications:



External Ids:

Disease Ontology 12 DOID:4534
OMIM 57 234100
MeSH 44 D006210
NCIt 50 C84746
SNOMED-CT 68 7903009
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 73 C0018522
Orphanet 59 ORPHA2108
MedGen 42 C0018522
UMLS 72 C0018522

Summaries for Hallermann-Streiff Syndrome

NIH Rare Diseases : 53 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 oculodentodigital dysplasia. An important gene associated with Hallermann-Streiff Syndrome is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways/superpathways are Myometrial Relaxation and Contraction Pathways and Adipogenesis. Affiliated tissues include skin, bone and eye, and related phenotypes are frontal bossing and brachycephaly

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

OMIM : 57 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 : 74 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 : 75 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 97)
# Related Disease Score Top Affiliating Genes
1 skin atrophy 31.0 LMNA GJA1
2 oculodentodigital dysplasia 30.9 GJC2 GJA1
3 mandibuloacral dysplasia with type a lipodystrophy 30.8 ZMPSTE24 LMNA
4 hutchinson-gilford progeria syndrome 30.4 ZMPSTE24 LMNA
5 hallermann-streiff-like syndrome 11.9
6 hypotrichosis simplex 11.3
7 neurodegeneration with brain iron accumulation 1 11.3
8 cataract 11.0
9 hypotrichosis 11.0
10 microphthalmia 11.0
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 hypomyelinating leukoencephalopathy 10.3 GJC2 GJA1
23 aniridia 1 10.3
24 cleft palate, isolated 10.3
25 hair whorl 10.3
26 treacher collins syndrome 1 10.3
27 chromosome 2q35 duplication syndrome 10.3
28 teeth present at birth 10.3
29 dermochondrocorneal dystrophy 10.3
30 hemihyperplasia, isolated 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:

59 32 (show top 50) (show all 97)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
2 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
3 reduced bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004349
4 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
5 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
6 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006
7 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
8 sparse body hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002231
9 dermal atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0004334
10 short ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000773
11 rib exostoses 59 32 hallmark (90%) Very frequent (99-80%) HP:0000896
12 proportionate short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003508
13 developmental cataract 32 hallmark (90%) HP:0000519
14 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
15 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
16 glossoptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000162
17 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
18 high, narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0002705
19 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
20 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
21 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
22 increased number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0011069
23 abnormality of the fontanelles or cranial sutures 59 32 frequent (33%) Frequent (79-30%) HP:0000235
24 recurrent fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002757
25 sparse eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000653
26 natal tooth 59 32 frequent (33%) Frequent (79-30%) HP:0000695
27 abnormality of hair texture 59 32 frequent (33%) Frequent (79-30%) HP:0010719
28 sparse and thin eyebrow 32 frequent (33%) HP:0000535
29 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
30 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
31 intellectual disability 59 32 very rare (1%) Occasional (29-5%) HP:0001249
32 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
33 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
34 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
35 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
36 short foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001773
37 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
38 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
39 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
40 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
41 small hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0200055
42 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
43 choanal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000453
44 uveitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000554
45 abdominal situs inversus 59 32 occasional (7.5%) Occasional (29-5%) HP:0003363
46 tracheomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002779
47 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
48 low-set ears 32 HP:0000369
49 pectus excavatum 32 HP:0000767
50 high palate 32 HP:0000218

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Head And Neck Eyes:
nystagmus
strabismus
microphthalmia
iris coloboma
blue sclerae
more
Head And Neck Mouth:
narrow palate
high-arched palate
microstomia
thin lips
everted lower lip

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

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Skeletal Spine:
scoliosis
spina bifida
lordosis
winging of scapula

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

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell migration GR00055-A-3 8.8 ERBB4 GJA1 GJB1

MGI Mouse Phenotypes related to Hallermann-Streiff Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 ERBB4 GJA1 GJB1 GJC2 ICMT IGF1
2 hematopoietic system MP:0005397 10.01 ERBB4 GJA1 GJB1 GJC2 ICMT IGF1
3 behavior/neurological MP:0005386 10 ERBB4 GJA1 GJB1 GJC2 LMNA OMD
4 immune system MP:0005387 9.91 ERBB4 GJA1 GJB1 GJC2 IGF1 LMNA
5 mortality/aging MP:0010768 9.86 ERBB4 GJA1 GJB1 GJC2 ICMT IGF1
6 integument MP:0010771 9.8 ERBB4 GJA1 ICMT IGF1 LMNA ZMPSTE24
7 nervous system MP:0003631 9.56 ERBB4 GJA1 GJB1 GJC2 ICMT IGF1
8 muscle MP:0005369 9.55 ERBB4 GJA1 IGF1 LMNA ZMPSTE24
9 normal MP:0002873 9.1 ERBB4 GJA1 GJC2 ICMT IGF1 LMNA

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:

41
Skin, Bone, Eye, Heart, Tongue, Brain, Cerebellum

Publications for Hallermann-Streiff Syndrome

Articles related to Hallermann-Streiff Syndrome:

(show top 50) (show all 160)
# Title Authors PMID Year
1
Hallermann-Streiff syndrome: a case review. 38 8
15347328 2004
2
Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. 38 8
8585575 1995
3
Congenital heart defect in a patient with the Hallermann-Streiff syndrome. 38 8
7864053 1994
4
Hallermann-Streiff syndrome: a review. 38 8
1776643 1991
5
Congenital cataracts in mother, sister, and son of a patient with Hallermann-Streiff syndrome: coincidence or clue? 38 8
1776644 1991
6
Radiological findings in Hallermann-Streiff syndrome: report of five cases and a review of the literature. 38 8
1776646 1991
7
Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome. 38 8
1776647 1991
8
Tracheomalacia in Hallermann-Streiff syndrome. 38 8
1776648 1991
9
Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia? 38 8
1663704 1991
10
Francois' dyscephalic syndrome. 38 8
6756501 1982
11
Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality. 38 8
6999913 1980
12
Hallermann-Streiff syndrome. Clinical and prognostic considerations. 38 8
5474755 1970
13
Hallermann-Streiff syndrome. 38 8
5755729 1968
14
Hallermann-Streiff syndrome, a dyscephaly with congenital cataracts and hypotrichosis. 38 8
13821451 1960
15
[Francois' syndrome: 5 cases]. 8
828926 1976
16
DYSCEPHALIA OCULO-MANDIBULO-FACIALIS; TWO CASES IN WHICH THE CHROMOSOMES WERE STUDIED. 8
14235296 1964
17
[On 2 cases of cranial dysostosis with "bird head"]. 8
13951503 1962
18
Further contributions to the study of the syndrome of Hallermann and Streiff. (Congenital cataract with "bird's face"). 8
14487806 1962
19
[Mandibulofacial dysmorphia with ocular abnormalities]. 8
15440024 1950
20
Unsolved recognizable patterns of human malformation: Challenges and opportunities. 38
30580485 2018
21
Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome. 38
30580479 2018
22
Diagnosis and Innovative Multidisciplinary Management of Hallermann-Streiff Syndrome: 20-Year Follow-Up of a Patient. 38
29578805 2018
23
Hallermann-Streiff Syndrome: Difficulty in airway increases with increasing age. 38
29929164 2018
24
Hallermann Streiff syndrome: 'Bird faced' but not 'bird brained'. 38
29692493 2018
25
Congenital Abnormalities of the Temporomandibular Joint. 38
29153239 2018
26
EXUDATIVE RETINAL DETACHMENT CAUSED BY A CHOROIDAL NEOVASCULAR MEMBRANE IN HALLERMANN-STREIFF SYNDROME. 38
27648586 2018
27
Hallermann-Streiff syndrome with bilateral microphthalmia, pupillary membranes and cataract absorption. 38
28730099 2017
28
Syndromes with supernumerary teeth. 38
27250821 2016
29
Brown-McLean Syndrome in a Patient with Hallermann-Streiff Syndrome. 38
26865807 2016
30
Complex Cases in Pediatric Cataract. 38
27043394 2016
31
Treatment of the nasal abnormalities of Hallermann-Streiff syndrome by lipofilling. 38
26194770 2015
32
Hallermann-Streiff syndrome with cutaneous manifestations. 38
24168356 2015
33
Comprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth. 38
25966733 2015
34
Generalized odontodysplasia in a 5-year-old patient with Hallermann-Streiff syndrome: clinical aspects, cone beam computed tomography findings, and conservative clinical approach. 38
25047934 2014
35
[Progress of temporomandibular joint prosthesis]. 38
25241552 2014
36
Hallermann-streiff syndrome. 38
24082185 2013
37
Hallermann-Streiff syndrome without cataract: case report from Kosova. 38
24601178 2013
38
Bilateral posterior semicircular canal dehiscence in the setting of Hallermann-Streiff syndrome. 38
22996707 2012
39
Gap junctions in inherited human disorders of the central nervous system. 38
21871435 2012
40
Difficult intubation in an infant with Hallermann-Streiff syndrome-easy with Airtraq laryngoscope. 38
22486910 2012
41
Orodental findings in Hallermann-Streiff syndrome. 38
22842271 2012
42
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. 38
22570643 2011
43
Mid-diaphyseal Endosteal Thickening With Subsequent Medullary Narrowing in a Patient With Hallermann-Streiff Syndrome. 38
22393346 2011
44
Reproductive success in patients with Hallermann-Streiff syndrome. 38
21815247 2011
45
Hallermann-Streiff syndrome patient treated with removable prosthesis: a clinical report. 38
21821160 2011
46
Natal teeth in an infant with congenital hypothyroidism. 38
22048606 2011
47
Hallermann-Streiff syndrome: case report and literature review. 38
21516279 2011
48
Surgical correction of Hallermann-Streiff syndrome: a case report of esotropia, entropion, and blepharoptosis. 38
21461230 2011
49
Hallermann-Streiff syndrome: a case report from Georgia. 38
21617280 2011
50
Retinal detachments involving the posterior pole in hallermann-streiff syndrome. 38
25389686 2011

Variations for Hallermann-Streiff Syndrome

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

74
# 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

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 9.56 ZMPSTE24 ICMT GJB1 GJA1
2 lateral plasma membrane GO:0016328 9.16 GJB1 GJA1
3 gap junction GO:0005921 9.13 GJC2 GJB1 GJA1
4 connexin complex GO:0005922 8.8 GJC2 GJB1 GJA1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.73 ZMPSTE24 IGF1 GJA1
2 cell-cell signaling GO:0007267 9.7 GJC2 GJB1 GJA1
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.58 IGF1 ERBB4
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.58 IGF1 ERBB4
5 regulation of heart contraction GO:0008016 9.55 ZMPSTE24 GJA1
6 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.54 LMNA IGF1
7 nucleus organization GO:0006997 9.51 ZMPSTE24 LMNA
8 regulation of multicellular organism growth GO:0040014 9.49 ZMPSTE24 IGF1
9 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.48 ZMPSTE24 GJA1
10 nuclear envelope organization GO:0006998 9.46 ZMPSTE24 LMNA
11 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.43 LMNA IGF1
12 cardiac conduction GO:0061337 9.4 ZMPSTE24 GJA1
13 gap junction assembly GO:0016264 9.37 GJB1 GJA1
14 positive regulation of gene expression GO:0010628 9.35 ZMPSTE24 LMNA IGF1 GJC2 GJA1
15 cell communication GO:0007154 9.33 GJC2 GJB1 GJA1
16 cell communication by electrical coupling GO:0010644 9.32 GJC2 GJA1
17 positive regulation of osteoblast differentiation GO:0045669 9.27 IGF1
18 epididymis development GO:1905867 9.26 GJB1 GJA1
19 regulation of bone mineralization GO:0030500 8.8 ZMPSTE24 OMD GJA1

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

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJC2 GJA1
2 gap junction channel activity GO:0005243 8.8 GJC2 GJB1 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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