HSS
MCID: HLL001
MIFTS: 59

Hallermann-Streiff Syndrome (HSS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories
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Summaries for Hallermann-Streiff Syndrome

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NIH Rare Diseases:42 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. last updated: 7/23/2012

MalaCards based summary: Hallermann-Streiff Syndrome, also known as francois dyscephalic syndrome, is related to cataract and retinal detachment, and has symptoms including brachycephaly/flat occiput, frontal bossing/prominent forehead and hypoplastic mandibula/partial absence of the mandibula. An important gene associated with Hallermann-Streiff Syndrome is GJA1 (gap junction protein, alpha 1, 43kDa), and among its related pathways are Hypertrophic cardiomyopathy (HCM) and Myometrial Relaxation and Contraction Pathways. The compounds lycopene and chelerythrine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Disease Ontology:8 A syndrome that affects growth, cranial development, hair growth and dental development.

Description from OMIM:46 234100

Aliases & Classifications for Hallermann-Streiff Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 48Orphanet, 46OMIM, 62UMLS, 34MeSH, 57SNOMED-CT, 39NCIt, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Hallermann-Streiff Syndrome, Aliases & Descriptions:

Name: Hallermann-Streiff Syndrome 8 9 42 10 48 46 62
Francois Dyscephalic Syndrome 8 42 62
Hallermann Streiff Syndrome 42 20 22
Hallermann Streiff Francois Syndrome 42 62
 
Hallermann's Syndrome 8 62
François Dyscephalic Syndrome 48
Hallerman - Streiff Syndrome 8
Hss 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
hallermann-streiff syndrome:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

Disease Ontology8 DOID:4534
OMIM46 234100
SNOMED-CT57 205417000, 7903009
NCIt39 C84746
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet63 C0018522

Related Diseases for Hallermann-Streiff Syndrome

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Diseases in the Hallermann-Streiff Syndrome family:

Hallermann-Streiff-Like Syndrome

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

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1cataract10.7
2retinal detachment10.6
3retinitis10.6
4hypotrichosis10.5
5bone fracture10.3
6coats disease10.3
7obstructive sleep apnea10.3
8aniridia10.3
9enophthalmos10.3
10progeria10.3
11entropion10.3
12esotropia10.3
13hypopituitarism10.3
14laryngitis10.3
15sleep apnea10.3
16agenesis of the corpus callosum10.3
17oculodentodigital dysplasia10.3
18hemihypertrophy10.3
19uterine fibroid10.0IGF1, GJA1
20osteosarcoma10.0IGF1, GJA1
21congenital heart disease10.0IGF1, GJA1
22endometrial carcinoma9.9IGF1, GJA1

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



Diseases related to hallermann-streiff syndrome

Symptoms for Hallermann-Streiff Syndrome

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Symptoms by clinical synopsis from OMIM:

234100

Clinical features from OMIM:

234100

Symptoms:

48 (show all 52)
  • brachycephaly/flat occiput
  • frontal bossing/prominent forehead
  • hypoplastic mandibula/partial absence of the mandibula
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • cataract/lens opacification
  • beaked nose
  • anomalies of teeth and dentition
  • clavicle absent/abnormal
  • anomalies of the ribs
  • skin hypoplasia/aplasia/atrophy
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • decreased body hair/axillar/pubic hairlessness
  • alopecia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • short stature/dwarfism/nanism
  • large fontanelle/delayed fontanelle closure
  • flat cheek bones/malar hypoplasia
  • micrognathia/retrognathia/micrognathism/retrognathism
  • visual loss/blindness/amblyopia
  • anomalies of eyelids, eyelashes and lacrimal system
  • telecanthus/canthal dystopy
  • small/triangular nares/nostrils
  • microstomia/little mouth
  • anomalies of tongue, gingiva and oral mucosa
  • glossoptosis
  • high vaulted/narrow palate
  • supernumerary teeth/polyodontia
  • premature eruption of teeth/natal teeth
  • abnormal hair texture/hair dysplasia
  • mutiple fractures/bone fragility
  • skull/cranial anomalies
  • microcephaly
  • glaucoma
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • myopia
  • strabismus/squint
  • nystagmus
  • choanal atresia
  • small hand/acromicria
  • clinodactyly of fifth finger
  • small foot
  • situs inversus visceralis/colon/intestine trasposition/heterotaxia
  • tracheomalacia/tracheobronchomalacia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • congenital cardiac anomaly/malformation/cardiopathy
  • heart/cardiac failure
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hypothyroidy
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • early death/lethality

HPO human phenotypes related to Hallermann-Streiff Syndrome:

(show all 105)
id Description Frequency HPO Source Accession
1 micrognathia hallmark (90%) HP:0000347
2 convex nasal ridge hallmark (90%) HP:0000444
3 cataract hallmark (90%) HP:0000518
4 abnormality of the ribs hallmark (90%) HP:0000772
5 abnormality of the clavicles hallmark (90%) HP:0000889
6 alopecia hallmark (90%) HP:0001596
7 frontal bossing hallmark (90%) HP:0002007
8 short stature hallmark (90%) HP:0004322
9 reduced bone mineral density hallmark (90%) HP:0004349
10 aplasia/hypoplasia affecting the eye hallmark (90%) HP:0008056
11 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
12 narrow mouth typical (50%) HP:0000160
13 glossoptosis typical (50%) HP:0000162
14 abnormality of the palate typical (50%) HP:0000174
15 abnormality of the fontanelles or cranial sutures typical (50%) HP:0000235
16 micrognathia typical (50%) HP:0000347
17 visual impairment typical (50%) HP:0000505
18 telecanthus typical (50%) HP:0000506
19 recurrent fractures typical (50%) HP:0002757
20 abnormality of the nares typical (50%) HP:0005288
21 advanced eruption of teeth typical (50%) HP:0006288
22 cheekbone underdevelopment typical (50%) HP:0010669
23 abnormality of hair texture typical (50%) HP:0010719
24 increased number of teeth typical (50%) HP:0011069
25 intellectual disability 15% HP:0001249
26 cryptorchidism occasional (7.5%) HP:0000028
27 microcephaly occasional (7.5%) HP:0000252
28 choanal atresia occasional (7.5%) HP:0000453
29 strabismus occasional (7.5%) HP:0000486
30 glaucoma occasional (7.5%) HP:0000501
31 myopia occasional (7.5%) HP:0000545
32 nystagmus occasional (7.5%) HP:0000639
33 hypothyroidism occasional (7.5%) HP:0000821
34 congestive heart failure occasional (7.5%) HP:0001635
35 short foot occasional (7.5%) HP:0001773
36 respiratory insufficiency occasional (7.5%) HP:0002093
37 tracheomalacia occasional (7.5%) HP:0002779
38 abdominal situs inversus occasional (7.5%) HP:0003363
39 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
40 short palm occasional (7.5%) HP:0004279
41 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
42 inflammatory abnormality of the eye occasional (7.5%) HP:0100533
43 cognitive impairment occasional (7.5%) HP:0100543
44 cryptorchidism HP:0000028
45 narrow mouth HP:0000160
46 narrow palate HP:0000189
47 high palate HP:0000218
48 everted lower lip vermilion HP:0000232
49 thin vermilion border HP:0000233
50 parietal bossing HP:0000242
51 brachycephaly HP:0000248
52 microcephaly HP:0000252
53 dolichocephaly HP:0000268
54 malar flattening HP:0000272
55 micrognathia HP:0000347
56 low-set ears HP:0000369
57 underdeveloped nasal alae HP:0000430
58 narrow nose HP:0000460
59 strabismus HP:0000486
60 downslanted palpebral fissures HP:0000494
61 cataract HP:0000518
62 sparse eyebrow HP:0000535
63 microphthalmos HP:0000568
64 optic nerve coloboma HP:0000588
65 blue sclerae HP:0000592
66 choroid coloboma HP:0000611
67 iris coloboma HP:0000612
68 nystagmus HP:0000639
69 sparse eyelashes HP:0000653
70 dental malocclusion HP:0000689
71 natal tooth HP:0000695
72 hyperactivity HP:0000752
73 pectus excavatum HP:0000767
74 thin ribs HP:0000883
75 dry skin HP:0000958
76 telangiectasia HP:0001009
77 abnormality of the hand HP:0001155
78 choreoathetosis HP:0001266
79 joint hypermobility HP:0001382
80 small for gestational age HP:0001518
81 selective tooth agenesis HP:0001592
82 abnormality of the nasopharynx HP:0001739
83 frontal bossing HP:0002007
84 generalized tonic-clonic seizures HP:0002069
85 pulmonary hypertension HP:0002092
86 recurrent respiratory infections HP:0002205
87 fine hair HP:0002213
88 spina bifida HP:0002414
89 wormian bones HP:0002645
90 scoliosis HP:0002650
91 platybasia HP:0002691
92 tracheomalacia HP:0002779
93 obstructive sleep apnea HP:0002870
94 metaphyseal widening HP:0003016
95 slender long bone HP:0003100
96 hyperlordosis HP:0003307
97 proportionate short stature HP:0003508
98 sporadic HP:0003745
99 dermal atrophy HP:0004334
100 hypotrichosis of the scalp HP:0004782
101 recurrent pneumonia HP:0006532
102 decreased number of sternal ossification centers HP:0006611
103 sparse hair HP:0008070
104 thin calvarium HP:0010539
105 increased number of teeth HP:0011069

Drugs & Therapeutics for Hallermann-Streiff Syndrome

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Drug clinical trials:

Search ClinicalTrials for Hallermann-Streiff Syndrome

Search NIH Clinical Center for Hallermann-Streiff Syndrome

Genetic Tests for Hallermann-Streiff Syndrome

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Genetic tests related to Hallermann-Streiff Syndrome:

id Genetic test Affiliating Genes
1 Hallermann-Streiff Syndrome20 22

Anatomical Context for Hallermann-Streiff Syndrome

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MalaCards organs/tissues related to Hallermann-Streiff Syndrome:

32
Skin, Bone, Eye, Testes, Cerebellum, Heart, Colon, Lung, Tongue, Brain

Animal Models for Hallermann-Streiff Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hallermann-Streiff Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.8GJA1, BCS1L, IGF1
2MP:00053798.7IGF1, BCS1L, GJA1
3MP:00028738.3GJA1, GJC2, IGF1
4MP:00107688.0GJA1, GJC2, BCS1L, IGF1

Publications for Hallermann-Streiff Syndrome

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Articles related to Hallermann-Streiff Syndrome:

(show top 50)    (show all 91)
idTitleAuthorsYear
1
Hallermann-streiff syndrome. (24082185)
2013
2
Hallermann-Streiff syndrome without cataract: case report from Kosova. (24601178)
2013
3
Difficult intubation in an infant with Hallermann-Streiff syndrome-easy with Airtraq laryngoscope. (22486910)
2012
4
Orodental findings in Hallermann-Streiff syndrome. (22842271)
2012
5
Hallermann-Streiff syndrome: a case report from Georgia. (21617280)
2011
6
Hallermann-Streiff syndrome patient treated with removable prosthesis: a clinical report. (21821160)
2011
7
Hallermann-Streiff syndrome: case report and literature review. (21516279)
2011
8
Reproductive success in patients with Hallermann-Streiff syndrome. (21815247)
2011
9
Hallermann-Streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome: a new congenital silent brain syndrome? (21792277)
2011
10
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. (22570643)
2011
11
Hallermann-Streiff syndrome with hemihypertrophy. (20964125)
2010
12
Hallermann-Streiff syndrome: a case report. (21163145)
2010
13
Lighted stylet-guided intubation via the intubating laryngeal airway in a patient with Hallermann-Streiff syndrome. (19247763)
2009
14
Exudative retinal detachment following cataract surgery in Hallermann-Streiff syndrome. (18193263)
2008
15
Macular retinal detachment in Hallermann-Streiff syndrome. (18268225)
2008
16
An atypical Hallermann-Streiff syndrome. Focus on dental care and differential diagnosis. (14765641)
2004
17
Hallermann-Streiff syndrome: a case review. (15347328)
2004
18
Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case. (15581837)
2004
19
Hallermann-Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage. (12892173)
2003
20
Hallermann-Streiff syndrome: experience with 15 patients and review of the literature. (10388418)
1999
21
Obstructive sleep apnoea in a puerperal patient with Hallermann-Streiff syndrome. (10573253)
1999
22
Chromosomal and clinical features in an infant with Hallermann-Streiff syndrome. (9301367)
1997
23
Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. (8585575)
1995
24
Hallermann-Streiff syndrome in one of dizygotic twins. (8116678)
1994
25
Hallermann-Streiff syndrome: airway problems during anaesthesia. (9136243)
1994
26
Congenital heart defect in a patient with the Hallermann-Streiff syndrome. (7864053)
1994
27
Hallermann-Streiff syndrome with Coats disease. (8014786)
1994
28
MCA/MR syndrome with features of Hallermann-Streiff syndrome and 4q deficiency/14q duplication. (8275573)
1993
29
Successful pregnancy in a patient with Hallermann-Streiff syndrome. (2014833)
1991
30
Anesthetic management of a patient with Hallermann-Streiff syndrome. (15278656)
1991
31
Hallermann-Streiff syndrome: a review. (1776643)
1991
32
The Hallermann-Streiff syndrome. (1840999)
1991
33
Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia? (1663704)
1991
34
Tracheomalacia in Hallermann-Streiff syndrome. (1776648)
1991
35
Nasal continuous positive airway pressure (CPAP) therapy for obstructive sleep apnea in Hallermann-Streiff syndrome. (2406080)
1990
36
Extensive wormian bones in a patient with the Hallermann-Streiff syndrome. (2299139)
1990
37
Evaluation and surgical correction of the facial skeletal deformity in Hallermann-Streiff syndrome. (3125273)
1987
38
Hallermann Streiff syndrome. (3679511)
1987
39
Hallermann-Streiff syndrome and its oral implications. (3455956)
1986
40
Airway management in Hallermann-Streiff syndrome. (6534195)
1984
41
Surgical correction of the dentofacial abnormality in Hallermann-Streiff syndrome. (7042940)
1982
42
Mandibulo-oculo-facial dyscephaly (Hallermann-Streiff syndrome) in a boy resulted from a consanguineous marriage. (7291945)
1981
43
Bilateral dislocation of the hip in Hallermann-Streiff syndrome. A case report. (1184628)
1975
44
Oral manifestations of oculomandibulodyscephaly with hypotrichosis (Hallermann-Streiff syndrome). (5277371)
1971
45
Hallermann-Streiff syndrome. (Dyscephalia mandibulo-oculo-facialis). (5154844)
1971
46
Hallermann-Streiff syndrome. (5457544)
1970
47
Glaucoma in the Hallermann-Streiff syndrome. (5448132)
1970
48
Craniofacial and oral manifestations in oculomandibulodyscephaly (Hallermann-Streiff syndrome). (5272043)
1970
49
Dyscephalia mandibulo-oculo-facialis. Hallermann-Streiff syndrome. A case report. (5587180)
1967
50
Roentgen differentiation of the oculodentodigital syndrome and the Hallermann-Streiff syndrome in infancy. (4955061)
1966

Variations for Hallermann-Streiff Syndrome

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Expression for genes affiliated with Hallermann-Streiff Syndrome

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Expression patterns in normal tissues for genes affiliated with Hallermann-Streiff Syndrome

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

Pathways for genes affiliated with Hallermann-Streiff Syndrome

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Compounds for genes affiliated with Hallermann-Streiff Syndrome

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Compounds related to Hallermann-Streiff Syndrome according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1lycopene44 2410.8GJA1, IGF1
2chelerythrine449.7GJA1, IGF1
3prostaglandin f2alpha449.7GJA1, IGF1
4triiodothyronine449.7GJA1, IGF1
5progestin449.7IGF1, GJA1
61,25 dihydroxy vitamin d3449.7GJA1, IGF1
7acth449.7GJA1, IGF1
8calcitriol44 61 24 1112.6IGF1, GJA1
9etoposide44 50 61 1112.6GJA1, IGF1
10ribonucleic acid449.6GJA1, IGF1
11sb 20358044 6110.5IGF1, GJA1
12tamoxifen44 50 28 1112.5GJA1, IGF1
1310panx619.5GJA1, GJC2
14gap 27619.5GJC2, GJA1
15carbenoxolone disodium619.5GJC2, GJA1
16scrambled 10panx619.5GJC2, GJA1
17octanol28 2410.5GJA1, GJC2
18carbenoxolone44 28 1111.5GJC2, GJA1
19ca2+289.4GJA1, GJC2
20pd 98,059449.4GJA1, IGF1
21genistein44 28 61 2 24 1114.4GJA1, IGF1
22flufenamic acid28 44 2 1112.4GJC2, GJA1
23ly294002449.3IGF1, GJA1
24estradiol44 24 1111.1GJA1, IGF1

GO Terms for genes affiliated with Hallermann-Streiff Syndrome

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Cellular components related to Hallermann-Streiff Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:0059229.1GJA1, GJC2

Biological processes related to Hallermann-Streiff Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell-cell signalingGO:0072679.1GJA1, GJC2

Molecular functions related to Hallermann-Streiff Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:0052439.1GJA1, GJC2

Products for genes affiliated with Hallermann-Streiff Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hallermann-Streiff Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet