MCID: HJD001
MIFTS: 50

Hajdu-Cheney Syndrome malady

Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Fetal diseases categories
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Summaries for Hajdu-Cheney Syndrome

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NIH Rare Diseases:42 Hajdu-cheney syndrome is a rare connective tissue disorder characterized by acroosteolysis (the breakdown of the bones in the fingers and the toes), skull deformities, and generalized osteoporosis. other symptoms may include short stature, joint laxity, premature loss of teeth, hearing loss, and a hoarse voice. most patients have normal intelligence. this condition is inherited in an autosomal dominant fashion and caused by mutations in the notch2 gene.  last updated: 11/4/2011

MalaCards based summary: Hajdu-Cheney Syndrome, also known as acroosteolysis dominant type, is related to osteoporosis and syringomyelia, and has symptoms including skull/cranial anomalies, poorly ossified skull/calvarium and wormian bones. An important gene associated with Hajdu-Cheney Syndrome is NOTCH2 (notch 2). Affiliated tissues include bone, skin and kidney.

Wikipedia:65 Hajdu?Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible,... more...

Descriptions from OMIM:46 102500,102400

Aliases & Classifications for Hajdu-Cheney Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 34MeSH, 57SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Hajdu-Cheney Syndrome, Aliases & Descriptions:

Name: Hajdu-Cheney Syndrome 8 9 42 20 22 46 10 48 62
Acroosteolysis Dominant Type 48 46 62
Arthrodentoosteodysplasia 42 48 62
Acroosteolysis with Osteoporosis and Changes in Skull and Mandible 42 48
 
Cheney Syndrome 42 48
Arthro-Dento-Ostéodysplasie 48
Acrodentoosteodysplasia 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
hajdu-cheney syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


External Ids:

Disease Ontology8 DOID:2736
NCIt39 C84745
SNOMED-CT57 27201004, 63122002
MESH via Orphanet35 C531695, C535663, D031845
ICD10 via Orphanet26 M89.5
UMLS via Orphanet63 C0917715, C2930971

Related Diseases for Hajdu-Cheney Syndrome

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Graphical network of the top 20 diseases related to Hajdu-Cheney Syndrome:



Diseases related to hajdu-cheney syndrome

Symptoms for Hajdu-Cheney Syndrome

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Symptoms by clinical synopsis from OMIM:

102400

Clinical features from OMIM:

102500,102400

Symptoms:

48 (show all 84)
  • skull/cranial anomalies
  • poorly ossified skull/calvarium
  • wormian bones
  • facial dysmorphism
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • micrognathia/retrognathia/micrognathism/retrognathism
  • thick/bushy eyebrows
  • telecanthus/canthal dystopy
  • long philtrum
  • alveolysis/paraodontitis
  • short hand/brachydactyly
  • terminal/third phalangeal bone of fingers hypoplasia
  • short foot/brachydactyly of toes
  • distal phalangeal bones of toes hypoplasia/absence
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • osteolysis/osteoclasia/bone destruction/erosions
  • autosomal dominant inheritance
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • dolichocephaly/scaphocephaly
  • prominent occiput/occipital bossing
  • basilary impression/invagination/cranio-spinal malformation/platybasia
  • coarse face
  • broad cheeks/cherub-like/cherubin face
  • hypoplastic mandibula/partial absence of the mandibula
  • dental malocclusion
  • anteverted nares/nostrils
  • frontal sinus agenesis/anomaly
  • microstomia/little mouth
  • thin/retracted lips
  • downturned mouth
  • cleft lip and palate
  • anomalies of teeth and dentition
  • hearing loss/hypoacusia/deafness
  • short neck
  • scoliosis
  • abnormal vertebral size/shape
  • hirsutism/hypertrichosis/increased body hair
  • abnormal fingernails
  • arnold-chiari anomaly
  • bone pain
  • articular/joint pain/arthralgia
  • hyperextensible joints/articular hyperlaxity
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • low hair line-front
  • flat cheek bones/malar hypoplasia
  • coloboma of iris
  • cataract/lens opacification
  • myopia
  • synophris/synophrys
  • broad nasal root
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • low set ears/posteriorly rotated ears
  • pectus carinatum
  • kyphosis
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • terminal broadening/clubbing of toes
  • dry/squaly skin/exfoliation
  • chronic skin infection/ulcerations/ulcers/cancrum
  • thick skin/pachydermia/orange skin
  • coarse/thick hair
  • intestinal/gut/bowel malrotation
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • abnormal cry/voice/phonation disorder/nasal speech
  • repeat respiratory infections
  • mitral valve atresia/stenosis/narrowing
  • aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
  • congenital cardiac anomaly/malformation/cardiopathy
  • ventricular septal defect/interventricular communication
  • patent ductus arteriosus
  • polycystic kidneys
  • hypospadias/epispadias/bent penis
  • late puberty/hypogonadism/hypogenitalism
  • syringomelia
  • hydrocephaly
  • peripheral neuropathy
  • facial pain/cephalalgia/migraine
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • mutiple fractures/bone fragility
  • bowed diaphysis/diaphyses/long bones
  • patella dislocation
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Hajdu-Cheney Syndrome:

(show all 127)
id Description Frequency HPO Source Accession
1 hypertelorism hallmark (90%) HP:0000316
2 long philtrum hallmark (90%) HP:0000343
3 micrognathia hallmark (90%) HP:0000347
4 downslanted palpebral fissures hallmark (90%) HP:0000494
5 telecanthus hallmark (90%) HP:0000506
6 thick eyebrow hallmark (90%) HP:0000574
7 periodontitis hallmark (90%) HP:0000704
8 brachydactyly syndrome hallmark (90%) HP:0001156
9 short toe hallmark (90%) HP:0001831
10 wormian bones hallmark (90%) HP:0002645
11 osteolysis hallmark (90%) HP:0002797
12 decreased skull ossification hallmark (90%) HP:0004331
13 reduced bone mineral density hallmark (90%) HP:0004349
14 short distal phalanx of finger hallmark (90%) HP:0009882
15 aplasia/hypoplasia of the distal phalanges of the toes hallmark (90%) HP:0010185
16 narrow mouth typical (50%) HP:0000160
17 thin vermilion border typical (50%) HP:0000233
18 macrocephaly typical (50%) HP:0000256
19 dolichocephaly typical (50%) HP:0000268
20 prominent occiput typical (50%) HP:0000269
21 coarse facial features typical (50%) HP:0000280
22 full cheeks typical (50%) HP:0000293
23 micrognathia typical (50%) HP:0000347
24 hearing impairment typical (50%) HP:0000365
25 anteverted nares typical (50%) HP:0000463
26 short neck typical (50%) HP:0000470
27 dental malocclusion typical (50%) HP:0000689
28 abnormality of the fingernails typical (50%) HP:0001231
29 joint hypermobility typical (50%) HP:0001382
30 arnold-chiari malformation typical (50%) HP:0002308
31 scoliosis typical (50%) HP:0002650
32 bone pain typical (50%) HP:0002653
33 abnormality of the frontal sinuses typical (50%) HP:0002687
34 downturned corners of mouth typical (50%) HP:0002714
35 arthralgia typical (50%) HP:0002829
36 abnormal form of the vertebral bodies typical (50%) HP:0003312
37 polycystic kidney dysplasia occasional (7.5%) HP:0000113
38 cleft palate occasional (7.5%) HP:0000175
39 hydrocephalus occasional (7.5%) HP:0000238
40 low anterior hairline occasional (7.5%) HP:0000294
41 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
42 wide nasal bridge occasional (7.5%) HP:0000431
43 cataract occasional (7.5%) HP:0000518
44 myopia occasional (7.5%) HP:0000545
45 iris coloboma occasional (7.5%) HP:0000612
46 synophrys occasional (7.5%) HP:0000664
47 pectus carinatum occasional (7.5%) HP:0000768
48 dry skin occasional (7.5%) HP:0000958
49 thickened skin occasional (7.5%) HP:0001072
50 umbilical hernia occasional (7.5%) HP:0001537
51 abnormality of the voice occasional (7.5%) HP:0001608
52 ventricular septal defect occasional (7.5%) HP:0001629
53 patent ductus arteriosus occasional (7.5%) HP:0001643
54 abnormality of the aortic valve occasional (7.5%) HP:0001646
55 mitral stenosis occasional (7.5%) HP:0001718
56 splenomegaly occasional (7.5%) HP:0001744
57 migraine occasional (7.5%) HP:0002076
58 neurological speech impairment occasional (7.5%) HP:0002167
59 recurrent respiratory infections occasional (7.5%) HP:0002205
60 coarse hair occasional (7.5%) HP:0002208
61 hepatomegaly occasional (7.5%) HP:0002240
62 intestinal malrotation occasional (7.5%) HP:0002566
63 recurrent fractures occasional (7.5%) HP:0002757
64 kyphosis occasional (7.5%) HP:0002808
65 patellar dislocation occasional (7.5%) HP:0002999
66 syringomyelia occasional (7.5%) HP:0003396
67 craniofacial hyperostosis occasional (7.5%) HP:0004493
68 bowing of the long bones occasional (7.5%) HP:0006487
69 peripheral neuropathy occasional (7.5%) HP:0009830
70 cheekbone underdevelopment occasional (7.5%) HP:0010669
71 displacement of the external urethral meatus occasional (7.5%) HP:0100627
72 clubbing of toes occasional (7.5%) HP:0100760
73 skin ulcer occasional (7.5%) HP:0200042
74 intestinal malrotation rare (5%) HP:0002566
75 autosomal dominant inheritance HP:0000006
76 juvenile onset HP:0003621
77 osteolytic defects of the phalanges of the hand HP:0009771
78 autosomal dominant inheritance HP:0000006
79 inguinal hernia HP:0000023
80 cryptorchidism HP:0000028
81 hypospadias HP:0000047
82 renal cyst HP:0000107
83 high palate HP:0000218
84 hydrocephalus HP:0000238
85 coarse facial features HP:0000280
86 epicanthus HP:0000286
87 full cheeks HP:0000293
88 long philtrum HP:0000343
89 micrognathia HP:0000347
90 low-set ears HP:0000369
91 conductive hearing impairment HP:0000405
92 wide nose HP:0000445
93 anteverted nares HP:0000463
94 short neck HP:0000470
95 downslanted palpebral fissures HP:0000494
96 telecanthus HP:0000506
97 long eyelashes HP:0000527
98 thick eyebrow HP:0000574
99 synophrys HP:0000664
100 dental malocclusion HP:0000689
101 osteopenia HP:0000938
102 osteoporosis HP:0000939
103 hirsutism HP:0001007
104 joint laxity HP:0001388
105 failure to thrive HP:0001508
106 umbilical hernia HP:0001537
107 patent ductus arteriosus HP:0001643
108 abnormality of the cardiac septa HP:0001671
109 short nail HP:0001799
110 acroosteolysis (feet) HP:0001842
111 wormian bones HP:0002645
112 absent frontal sinuses HP:0002688
113 kyphoscoliosis HP:0002751
114 pathologic fracture HP:0002756
115 genu valgum HP:0002857
116 vertebral compression fractures HP:0002953
117 dislocated radial head HP:0003083
118 short stature HP:0004322
119 biconcave vertebral bodies HP:0004586
120 elongated sella turcica HP:0005463
121 basilar impression HP:0005758
122 crowded carpal bones HP:0006180
123 premature loss of teeth HP:0006480
124 tall lumbar vertebral bodies HP:0008421
125 cervical instability HP:0008462
126 large earlobe HP:0009748
127 osteolytic defects of the phalanges of the hand HP:0009771

Drugs & Therapeutics for Hajdu-Cheney Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Hajdu-Cheney Syndrome

Genetic Tests for Hajdu-Cheney Syndrome

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Genetic tests related to Hajdu-Cheney Syndrome:

id Genetic test Affiliating Genes
1 Hajdu-Cheney Syndrome20 22 NOTCH2

Anatomical Context for Hajdu-Cheney Syndrome

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MalaCards organs/tissues related to Hajdu-Cheney Syndrome:

32
Bone, Skin, Kidney, Liver, Spinal cord

Animal Models for Hajdu-Cheney Syndrome or affiliated genes

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Publications for Hajdu-Cheney Syndrome

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Articles related to Hajdu-Cheney Syndrome:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Osteolysis with secondary arthritis of the scaphotrapeziotrapezoid joint in Hajdu-Cheney syndrome: a case report. (24641753)
2014
2
Continuous spinal labor analgesia in a patient with Hajdu-Cheney syndrome. (23970057)
2013
3
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome. (23117206)
2013
4
Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome. (23401378)
2013
5
Hajdu-Cheney Syndrome With Osteomyelitis of Mandible, Calcification of Falx Cerebri and Palatal Groove. (24010868)
2013
6
Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. (23389697)
2013
7
A girl with Hajdu-Cheney syndrome and premature ovarian failure. (22570971)
2012
8
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. (21712856)
2012
9
Two-year cyclic infusion of pamidronate improves bone mass density and eliminates risk of fractures in a girl with osteoporosis due to Hajdu-Cheney syndrome. (22766895)
2012
10
Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome. (22749662)
2012
11
Hajdu-Cheney syndrome with severe dural ectasia. (21337686)
2011
12
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. (21378985)
2011
13
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. (21671395)
2011
14
Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome. (21488202)
2011
15
Anesthesia for a child with Hajdu-Cheney syndrome. (19646007)
2009
16
Hajdu-Cheney syndrome: infantile onset of hydrocephalus and serpentine fibulae. (20158625)
2009
17
Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease. (18815778)
2009
18
Spinal reconstruction in Hajdu-Cheney syndrome. (18556886)
2008
19
Integrated anti-remodeling and anabolic therapy for the osteoporosis of Hajdu-Cheney syndrome: 2-year follow-up. (17874031)
2008
20
Periodontitis associated with Hajdu-Cheney syndrome. (17760556)
2007
21
Hajdu-Cheney syndrome in a 19-year-old man. (17229668)
2006
22
Hajdu-Cheney syndrome: report of a family and a short literature review. (17107523)
2006
23
Spontaneous regression of syringomyelia in Hajdu-Cheney syndrome with severe platybasia. Case report. (16370291)
2005
24
Hajdu-Cheney syndrome and syringomyelia. Case report. (12507146)
2002
25
Acro-osteolysis and osteoporosis as manifestations of the Hajdu-Cheney syndrome. (12175120)
2002
26
Hajdu-Cheney syndrome with growth hormone deficiency and neuropathy. (10968485)
2000
27
Severe osteoporosis in familial Hajdu-Cheney syndrome: progression of acro-osteolysis and osteoporosis during long-term follow-up. (10620062)
1999
28
Further evidence that the Hajdu-Cheney syndrome and the &quot;serpentine fibula-polycystic kidney syndrome&quot; are a single entity. (9714016)
1998
29
Serpentine fibula syndrome: a variant clinical presentation of Hajdu-Cheney syndrome? (9220203)
1997
30
Severe Hajdu-Cheney syndrome with upper airway obstruction. (9188663)
1997
31
Syringohydromyelia in Hajdu-Cheney syndrome. (8598999)
1996
32
Kidney abnormalities in Hajdu-Cheney syndrome. (8971886)
1996
33
Cystic kidney disease in Hajdu-Cheney syndrome. (7747781)
1995
34
Acro-osteolysis (Hajdu-Cheney) syndrome: report of a case with abnormal tooth structure. (8680972)
1995
35
Hajdu-Cheney syndrome. (8203959)
1994
36
Acro-osteolysis (Hajdu-Cheney syndrome) (8172752)
1994
37
Hydrocephalus in Hajdu-Cheney syndrome. (8445627)
1993
38
C.T. findings in the Hajdu-Cheney syndrome. (1870934)
1991
39
Hajdu-Cheney syndrome: MR imaging. (1749477)
1991
40
Cervical instability as an unusual manifestation of Hajdu-Cheney syndrome of acroosteolysis. (2347142)
1990
41
High turnover osteoporosis in acro-osteolysis (Hajdu-Cheney syndrome). (2365959)
1990
42
Genetics of the Hajdu-Cheney syndrome. (3606689)
1987
43
Idiopathic familial acroosteolysis: histomorphometric study of bone and literature review of the Hajdu-Cheney syndrome. (3527178)
1986
44
Hajdu-Cheney syndrome: rehabilitation after decompression of cervical spinal cord compromise. (6712442)
1984
45
Acro-osteolysis in a patient with Hajdu-Cheney syndrome demonstrated by bone scintigraphy. (6509839)
1984
46
Hajdu-Cheney syndrome. (547971)
1979
47
Hereditary osteodysplasia with acro-osteolysis. (The Hajdu-Cheney syndrome). (707523)
1978
48
Sporadic idiopathic acroosteolysis with cranio-skeletal dysplasis, polycystic kidneys and glomerulonephritis. A case of the Hajdu-Cheney syndrome. (896350)
1977
49
The Hajdu-Cheney syndrome. Report of two cases and review of the literature. (1249686)
1976
50
Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome). Review of a genetic &quot;acro-osteolysis&quot; syndrome. (4699178)
1973

Variations for Hajdu-Cheney Syndrome

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Clinvar genetic disease variations for Hajdu-Cheney Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1NOTCH2NOTCH2, 1-BP DEL, 6272TdeletionPathogenic
2NOTCH2NOTCH2, 1-BP DEL, 6460TdeletionPathogenic
3NOTCH2NM_024408.3(NOTCH2): c.6622C> T (p.Gln2208Ter)single nucleotide variantPathogenicrs387906746GRCh37Chr 1, 120458723: 120458723
4NOTCH2NOTCH2, TYR2373TERsingle nucleotide variantPathogenic
5NOTCH2NM_024408.3(NOTCH2): c.6949C> T (p.Gln2317Ter)single nucleotide variantPathogenicrs387906747GRCh37Chr 1, 120458396: 120458396
6NOTCH2NM_024408.3(NOTCH2): c.6895G> T (p.Glu2299Ter)single nucleotide variantPathogenicrs387906748GRCh37Chr 1, 120458450: 120458450
7NOTCH2NM_024408.3(NOTCH2): c.7165C> T (p.Gln2389Ter)single nucleotide variantPathogenicrs387906749GRCh37Chr 1, 120458180: 120458180

Expression for genes affiliated with Hajdu-Cheney Syndrome

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Expression patterns in normal tissues for genes affiliated with Hajdu-Cheney Syndrome

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Pathways for genes affiliated with Hajdu-Cheney Syndrome

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Compounds for genes affiliated with Hajdu-Cheney Syndrome

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GO Terms for genes affiliated with Hajdu-Cheney Syndrome

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Cellular components related to Hajdu-Cheney Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.5NOTCH2NL, NOTCH2, FLNA

Biological processes related to Hajdu-Cheney Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1multicellular organismal developmentGO:0072759.3NOTCH2NL, NOTCH2
2Notch signaling pathwayGO:0072199.0NOTCH2NL, NOTCH2

Products for genes affiliated with Hajdu-Cheney Syndrome

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Sources for Hajdu-Cheney 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