MCID: HLL001
MIFTS: 53

Hallermann-Streiff Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories

Aliases & Classifications for Hallermann-Streiff Syndrome

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Sources:
10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 49OMIM, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Hallermann-Streiff Syndrome:

Name: Hallermann-Streiff Syndrome 10 11 45 12 51 49 67
Francois Dyscephalic Syndrome 10 45 22 67
Hallermann Streiff Syndrome 45 22 24
Hallermann's Syndrome 10 65 36
 
Hss 45 67
Hallermann Streiff Francois Syndrome 45
François Dyscephalic Syndrome 51
Hallerman - Streiff Syndrome 10


Classifications:



Characteristics (Orphanet epidemiological data):

51
hallermann-streiff syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Disease Ontology10 DOID:4534
NCIt42 C84746
Orphanet51 2108
SNOMED-CT59 205417000, 7903009
ICD10 via Orphanet28 Q87.0
UMLS via Orphanet66 C0018522
OMIM49 234100
MedGen34 C0018522

Summaries for Hallermann-Streiff Syndrome

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NIH Rare Diseases:45 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 oculodentodigital dysplasia and cataract, and has symptoms including micrognathia, convex nasal ridge and cataract. An important gene associated with Hallermann-Streiff Syndrome is GJA1 (Gap Junction Protein, Alpha 1, 43kDa), and among its related pathways are Oligomerization of connexins into connexons and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). Affiliated tissues include skin, bone and eye, and related mouse phenotypes are vision/eye and muscle.

Disease Ontology:10 A syndrome that affects growth, cranial development, hair growth and dental development.

OMIM:49 Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing),... (234100) more...

UniProtKB/Swiss-Prot:67 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.

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 Suite gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1oculodentodigital dysplasia30.6GJA1, GJB1, GJC2
2cataract10.8
3retinal detachment10.6
4retinitis10.6
5hypotrichosis10.5
6aniridia10.4
7bone fracture10.4
8progeria10.4
9enophthalmos10.4
10tracheomalacia10.4
11sclerocornea10.4
12obstructive sleep apnea10.4
13coats disease10.4
14entropion10.4
15esotropia10.4
16hypopituitarism10.4
17laryngitis10.4
18sleep apnea10.4
19hemihypertrophy10.4
20iron metabolism disease10.1IGF2, OPTN
21neurodegeneration with brain iron accumulation 110.1
22neurodegeneration with brain iron accumulation disorders10.1
23erythrokeratodermia variabilis et progressiva10.1GJA1, GJB1
24paronychia10.1GJA1, OPTN
25pellagra like syndrome10.0GJA1, GJB1, GJC2
26shigellosis10.0IGF1, IGF2
27endometrial stromal nodule10.0IGF1, IGF2
28fatal infantile encephalomyopathy10.0IGF1, IGF2
29laron dwarfism10.0IGF1, IGF2
30osteonecrosis10.0IGF1, IGF2
31hyperinsulinism10.0IGF1, IGF2
32hemiplegia10.0IGF1, IGF2
33fetal methimazole syndrome10.0IGF1, IGF2
34breast mucinous cystadenocarcinoma10.0IGF1, IGF2
35duodenogastric reflux10.0GJA1, NOTCH1
36lepre1-related osteogenesis imperfecta9.9ERBB4, NOTCH1
37uterine ligament adenocarcinoma9.9IGF1, IGF2
38endodermal sinus tumor9.9IGF1, IGF2
39ichthyosis lamellar 19.8GJA1, NOTCH1
40juxtacortical chondrosarcoma8.6BCS1L, ERBB4, GJA1, GJB1, GJC2, IGF1

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:

 51 (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 clavicle 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 hypoplasia of the zygomatic bone 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 chorioretinal coloboma HP:0000567
64 microphthalmos HP:0000568
65 optic nerve coloboma HP:0000588
66 blue sclerae HP:0000592
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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hallermann-Streiff Syndrome


Cochrane evidence based reviews: Hallermann's 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 Syndrome22 24

Anatomical Context for Hallermann-Streiff Syndrome

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MalaCards organs/tissues related to Hallermann-Streiff Syndrome:

33
Skin, Bone, Eye, Heart, Cerebellum, Testes, Tongue

Animal Models for Hallermann-Streiff Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hallermann-Streiff Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.4GJA1, GJB1, GJC2, IGF2, NOTCH1
2MP:00053698.1ERBB4, GJA1, IGF1, IGF2, NOTCH1
3MP:00053888.0ERBB4, GJA1, IGF1, IGF2, NOTCH1
4MP:00053867.7BCS1L, ERBB4, GJA1, GJB1, GJC2, IGF2
5MP:00053797.4BCS1L, ERBB4, GJA1, IGF1, IGF2, NOTCH1
6MP:00036317.0ERBB4, GJA1, GJB1, GJC2, IGF1, IGF2
7MP:00107686.9BCS1L, ERBB4, GJA1, GJB1, GJC2, IGF1

Publications for Hallermann-Streiff Syndrome

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Articles related to Hallermann-Streiff Syndrome:

(show top 50)    (show all 94)
idTitleAuthorsYear
1
Comprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth. (25966733)
2015
2
Hallermann-streiff syndrome. (24082185)
2013
3
Hallermann-Streiff syndrome without cataract: case report from Kosova. (24601178)
2013
4
Difficult intubation in an infant with Hallermann-Streiff syndrome-easy with Airtraq laryngoscope. (22486910)
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
Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome. (1776647)
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
Surgical correction of the dentofacial abnormality in Hallermann-Streiff syndrome. (7042940)
1982
41
Mandibulo-oculo-facial dyscephaly (Hallermann-Streiff syndrome) in a boy resulted from a consanguineous marriage. (7291945)
1981
42
Bilateral dislocation of the hip in Hallermann-Streiff syndrome. A case report. (1184628)
1975
43
Oral manifestations of oculomandibulodyscephaly with hypotrichosis (Hallermann-Streiff syndrome). (5277371)
1971
44
Hallermann-Streiff syndrome. (Dyscephalia mandibulo-oculo-facialis). (5154844)
1971
45
The Hallermann-Streiff syndrome. (5559232)
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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UniProtKB/Swiss-Prot genetic disease variations for Hallermann-Streiff Syndrome:

67
id Symbol AA change Variation ID SNP ID
1GJA1p.Arg76HisVAR_058997

Expression for genes affiliated with Hallermann-Streiff Syndrome

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

Pathways for genes affiliated with Hallermann-Streiff Syndrome

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GO Terms for genes affiliated with Hallermann-Streiff Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:00059229.8GJA1, GJB1, GJC2
2gap junctionGO:00059219.4GJA1, GJB1, GJC2
3platelet alpha granule lumenGO:00310939.3IGF1, IGF2

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1gap junction assemblyGO:001626410.4GJA1, GJB1
2positive regulation of glycogen biosynthetic processGO:004572510.0IGF1, IGF2
3exocrine pancreas developmentGO:003101710.0IGF1, IGF2
4positive regulation of tyrosine phosphorylation of Stat5 proteinGO:00425239.9ERBB4, IGF1
5cell communicationGO:00071549.9GJA1, GJB1, GJC2
6positive regulation of activated T cell proliferationGO:00421049.9IGF1, IGF2
7cell-cell signalingGO:00072679.7GJA1, GJB1, GJC2
8positive regulation of cardiac muscle cell proliferationGO:00600459.7ERBB4, NOTCH1
9prostate gland epithelium morphogenesisGO:00607409.7IGF1, NOTCH1
10branching morphogenesis of an epithelial tubeGO:00487549.6IGF1, NOTCH1
11glial cell differentiationGO:00100019.5IGF1, NOTCH1
12positive regulation of mitotic nuclear divisionGO:00458409.4IGF1, IGF2
13heart developmentGO:00075078.5ERBB4, GJA1, NOTCH1
14negative regulation of cell proliferationGO:00082858.3ERBB4, GJA1, IGF1, NOTCH1
15positive regulation of cell proliferationGO:00082847.7ERBB4, IGF1, IGF2, NOTCH1, OPTN

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00052439.5GJA1, GJB1, GJC2
2insulin receptor bindingGO:00051589.4IGF1, IGF2
3insulin-like growth factor receptor bindingGO:00051599.1IGF1, IGF2

Sources for Hallermann-Streiff Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet