MCID: HLL001
MIFTS: 55

Hallermann-Streiff Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases
Genes Variation Tissues Related diseases Publications Pathways Symptoms

Aliases & Classifications for Hallermann-Streiff Syndrome

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Aliases & Descriptions for Hallermann-Streiff Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
hallermann-streiff syndrome:
Inheritance: sporadic


Classifications:

MalaCards categories:
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Bone diseases, Skin diseases
See all MalaCards categories (disease lists)
ICD10: 28
Orphanet: 51 
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology10 DOID:4534
MeSH36 D006210
NCIt42 C84746
Orphanet51 2108
SNOMED-CT59 205417000, 7903009
ICD10 via Orphanet28 Q87.0
UMLS via Orphanet66 C0018522
MedGen34 C0018522
OMIM49 234100
UMLS65 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 hypotrichosis and neurodegeneration with brain iron accumulation 1, and has symptoms including aplasia/hypoplasia of the skin, aplasia/hypoplasia affecting the eye and reduced bone mineral density. An important gene associated with Hallermann-Streiff Syndrome is GJA1 (Gap Junction Protein Alpha 1), 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 respiratory system.

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
1hypotrichosis25.5BCS1L, ERBB4, GJA1, GJB1, GJC2, IGF1
2neurodegeneration with brain iron accumulation 110.9
3neurodegeneration with brain iron accumulation disorders10.9
4cataract10.6
5grid2-related spinocerebellar ataxia10.5GJA1, GJC2
6retinitis10.4
7retinal detachment10.4
8gonadal dysgenesis10.3GJA1, OPTN
9clitoris cancer10.3IGF2, OPTN
10erythrokeratodermia variabilis et progressiva10.3GJA1, GJB1
11oculodentodigital dysplasia10.2
12aniridia10.2
13bone fracture10.2
14sleep apnea10.2
15obstructive sleep apnea10.2
16sclerocornea10.2
17tracheomalacia10.2
18enophthalmos10.2
19entropion10.2
20laryngitis10.2
21progeria10.2
22coats disease10.2
23hypopituitarism10.2
24esotropia10.2
25pellagra like syndrome10.1GJA1, GJB1, GJC2
26syndactyly, type iii10.1GJA1, GJB1, GJC2
27vagus nerve disease10.1IGF1, IGF2
28bacterial esophagitis10.1IGF1, IGF2
29fetal methimazole syndrome10.1IGF1, IGF2
30growth hormone insensitivity, partial10.1IGF1, IGF2
31fatal infantile encephalomyopathy10.0IGF1, IGF2
32osteonecrosis10.0IGF1, IGF2
33struma ovarii10.0IGF1, IGF2
34spindle cell hemangioma9.9IGF1, IGF2
35tricuspid valve insufficiency9.9GJA1, NOTCH1
36lepre1-related osteogenesis imperfecta9.8ERBB4, NOTCH1
37primary hypertrophic osteoarthropathy9.8IGF1, IGF2
38oculoglandular tularemia9.8IGF1, IGF2
39hepatic flexure cancer9.7IGF1, IGF2
40ichthyosis lamellar 19.5GJA1, NOTCH1

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 104)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
2 aplasia/hypoplasia affecting the eye hallmark (90%) HP:0008056
3 reduced bone mineral density hallmark (90%) HP:0004349
4 short stature hallmark (90%) HP:0004322
5 frontal bossing hallmark (90%) HP:0002007
6 alopecia hallmark (90%) HP:0001596
7 abnormality of the clavicle hallmark (90%) HP:0000889
8 abnormality of the ribs hallmark (90%) HP:0000772
9 cataract hallmark (90%) HP:0000518
10 convex nasal ridge hallmark (90%) HP:0000444
11 micrognathia hallmark (90%) HP:0000347
12 increased number of teeth typical (50%) HP:0011069
13 abnormality of hair texture typical (50%) HP:0010719
14 hypoplasia of the zygomatic bone typical (50%) HP:0010669
15 advanced eruption of teeth typical (50%) HP:0006288
16 abnormality of the nares typical (50%) HP:0005288
17 recurrent fractures typical (50%) HP:0002757
18 telecanthus typical (50%) HP:0000506
19 visual impairment typical (50%) HP:0000505
20 micrognathia typical (50%) HP:0000347
21 abnormality of the fontanelles or cranial sutures typical (50%) HP:0000235
22 abnormality of the palate typical (50%) HP:0000174
23 glossoptosis typical (50%) HP:0000162
24 narrow mouth typical (50%) HP:0000160
25 intellectual disability 15% HP:0001249
26 cognitive impairment occasional (7.5%) HP:0100543
27 inflammatory abnormality of the eye occasional (7.5%) HP:0100533
28 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
29 short palm occasional (7.5%) HP:0004279
30 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
31 abdominal situs inversus occasional (7.5%) HP:0003363
32 tracheomalacia occasional (7.5%) HP:0002779
33 respiratory insufficiency occasional (7.5%) HP:0002093
34 short foot occasional (7.5%) HP:0001773
35 congestive heart failure occasional (7.5%) HP:0001635
36 hypothyroidism occasional (7.5%) HP:0000821
37 nystagmus occasional (7.5%) HP:0000639
38 myopia occasional (7.5%) HP:0000545
39 glaucoma occasional (7.5%) HP:0000501
40 strabismus occasional (7.5%) HP:0000486
41 choanal atresia occasional (7.5%) HP:0000453
42 microcephaly occasional (7.5%) HP:0000252
43 cryptorchidism occasional (7.5%) HP:0000028
44 increased number of teeth HP:0011069
45 thin calvarium HP:0010539
46 sparse hair HP:0008070
47 decreased number of sternal ossification centers HP:0006611
48 recurrent pneumonia HP:0006532
49 hypotrichosis of the scalp HP:0004782
50 dermal atrophy HP:0004334
51 proportionate short stature HP:0003508
52 hyperlordosis HP:0003307
53 slender long bone HP:0003100
54 metaphyseal widening HP:0003016
55 obstructive sleep apnea HP:0002870
56 tracheomalacia HP:0002779
57 platybasia HP:0002691
58 scoliosis HP:0002650
59 wormian bones HP:0002645
60 spina bifida HP:0002414
61 fine hair HP:0002213
62 recurrent respiratory infections HP:0002205
63 pulmonary hypertension HP:0002092
64 generalized tonic-clonic seizures HP:0002069
65 frontal bossing HP:0002007
66 abnormality of the nasopharynx HP:0001739
67 selective tooth agenesis HP:0001592
68 small for gestational age HP:0001518
69 joint hypermobility HP:0001382
70 choreoathetosis HP:0001266
71 abnormality of the hand HP:0001155
72 telangiectasia HP:0001009
73 dry skin HP:0000958
74 thin ribs HP:0000883
75 pectus excavatum HP:0000767
76 hyperactivity HP:0000752
77 natal tooth HP:0000695
78 dental malocclusion HP:0000689
79 sparse eyelashes HP:0000653
80 nystagmus HP:0000639
81 iris coloboma HP:0000612
82 blue sclerae HP:0000592
83 optic nerve coloboma HP:0000588
84 microphthalmia HP:0000568
85 chorioretinal coloboma HP:0000567
86 sparse eyebrow HP:0000535
87 cataract HP:0000518
88 downslanted palpebral fissures HP:0000494
89 strabismus HP:0000486
90 narrow nose HP:0000460
91 underdeveloped nasal alae HP:0000430
92 low-set ears HP:0000369
93 micrognathia HP:0000347
94 malar flattening HP:0000272
95 dolichocephaly HP:0000268
96 microcephaly HP:0000252
97 brachycephaly HP:0000248
98 parietal bossing HP:0000242
99 thin vermilion border HP:0000233
100 everted lower lip vermilion HP:0000232
101 high palate HP:0000218
102 narrow palate HP:0000189
103 narrow mouth HP:0000160
104 cryptorchidism HP:0000028

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

Anatomical Context for Hallermann-Streiff Syndrome

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MalaCards organs/tissues related to Hallermann-Streiff Syndrome:

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

Animal Models for Hallermann-Streiff Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hallermann-Streiff Syndrome:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.6GJA1, GJB1, GJC2, IGF2, NOTCH1
2MP:00053888.2ERBB4, GJA1, IGF1, IGF2, NOTCH1
3MP:00053698.1ERBB4, GJA1, IGF1, IGF2, NOTCH1
4MP:00053868.0BCS1L, ERBB4, GJA1, GJB1, GJC2, IGF2
5MP:00053797.9BCS1L, ERBB4, GJA1, IGF1, IGF2, NOTCH1
6MP:00036317.4ERBB4, GJA1, GJB1, GJC2, IGF1, IGF2
7MP:00053977.1ERBB4, GJA1, GJB1, GJC2, IGF1, IGF2
8MP:00053847.0BCS1L, ERBB4, GJA1, GJB1, GJC2, IGF1
9MP:00053876.8ERBB4, GJA1, GJB1, GJC2, IGF1, IGF2
10MP:00107686.6BCS1L, 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 96)
idTitleAuthorsYear
1
Brown-McLean Syndrome in a Patient with Hallermann-Streiff Syndrome. (26865807)
2016
2
Comprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth. (25966733)
2015
3
Hallermann-streiff syndrome. (24082185)
2013
4
Hallermann-Streiff syndrome without cataract: case report from Kosova. (24601178)
2013
5
Difficult intubation in an infant with Hallermann-Streiff syndrome-easy with Airtraq laryngoscope. (22486910)
2012
6
Hallermann-Streiff syndrome: a case report from Georgia. (21617280)
2011
7
Hallermann-Streiff syndrome patient treated with removable prosthesis: a clinical report. (21821160)
2011
8
Hallermann-Streiff syndrome: case report and literature review. (21516279)
2011
9
Reproductive success in patients with Hallermann-Streiff syndrome. (21815247)
2011
10
Hallermann-Streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome: a new congenital silent brain syndrome? (21792277)
2011
11
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. (22570643)
2011
12
Hallermann-Streiff syndrome with hemihypertrophy. (20964125)
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
Hallermann-Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage. (12892173)
2003
19
Hallermann-Streiff syndrome: experience with 15 patients and review of the literature. (10388418)
1999
20
Obstructive sleep apnoea in a puerperal patient with Hallermann-Streiff syndrome. (10573253)
1999
21
Chromosomal and clinical features in an infant with Hallermann-Streiff syndrome. (9301367)
1997
22
Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. (8585575)
1995
23
Hallermann-Streiff syndrome in one of dizygotic twins. (8116678)
1994
24
Hallermann-Streiff syndrome: airway problems during anaesthesia. (9136243)
1994
25
Congenital heart defect in a patient with the Hallermann-Streiff syndrome. (7864053)
1994
26
Hallermann-Streiff syndrome with Coats disease. (8014786)
1994
27
MCA/MR syndrome with features of Hallermann-Streiff syndrome and 4q deficiency/14q duplication. (8275573)
1993
28
Successful pregnancy in a patient with Hallermann-Streiff syndrome. (2014833)
1991
29
Anesthetic management of a patient with Hallermann-Streiff syndrome. (15278656)
1991
30
Hallermann-Streiff syndrome: a review. (1776643)
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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Pathways related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Oligomerization of connexins into connexons57
Show member pathways
9.8GJA1, GJB1
2
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)57
9.4IGF1, IGF2
3
EGFR Transactivation by Gastrin57
Show member pathways
9.4IGF1, IGF2
4
Signaling in Gap Junctions55
Show member pathways
9.4GJA1, GJB1, GJC2
5
Gap junction trafficking57
Show member pathways
9.4GJA1, GJB1, GJC2
6
Cell adhesion_ECM remodeling62
8.9ERBB4, IGF1, IGF2
7
Proteoglycans in cancer31
8.9ERBB4, IGF1, IGF2
8
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers56
8.7GJA1, IGF1, NOTCH1
9
Cardiac Progenitor Differentiation39
8.6IGF1, IGF2, NOTCH1

GO Terms for genes affiliated with Hallermann-Streiff Syndrome

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of glycogen biosynthetic processGO:004572510.0IGF1, IGF2
2response to nutrient levelsGO:00316679.9IGF1, IGF2
3positive regulation of tyrosine phosphorylation of Stat5 proteinGO:00425239.8ERBB4, IGF1
4positive regulation of osteoblast differentiationGO:00456699.8GJA1, IGF1
5cellular response to mechanical stimulusGO:00712609.8GJA1, IGF2
6regulation of calcium ion transportGO:00519249.7GJA1, IGF1
7heart loopingGO:00019479.7GJA1, NOTCH1
8positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.6ERBB4, IGF1
9regulation of bone mineralizationGO:00305009.6GJA1, OMD
10platelet degranulationGO:00025769.5IGF1, IGF2
11regulation of cell migrationGO:00303349.4ERBB4, NOTCH1
12memoryGO:00076139.4IGF1, IGF2
13heart developmentGO:00075079.0ERBB4, GJA1, NOTCH1
14positive regulation of cell proliferationGO:00082848.3IGF1, IGF2, NOTCH1

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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z