ORPHA:955
Hajdu-Cheney syndrome
Synonyms: Acroosteolysis dominant type · Acroosteolysis with osteoporosis and changes in skull and mandible · Arthrodentoosteodysplasia · Cheney syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare autosomal dominant skeletal disorder, characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hajdu-Cheney syndrome | Acroosteolysis dominant type · Acroosteolysis with osteoporosis and changes in skull and mandible · Arthrodentoosteodysplasia · Cheney syndrome |
| fr | Syndrome de Hajdu-Cheney | Acro-ostéolyse autosomique dominante · Acrostéolyse autosomique dominante · Arthro-dento-ostéodysplasie · Dysplasie acro-dento-osseuse · Syndrome de Cheney |
| de | Hajdu-Cheney-Syndrom | Akro-dento-osteodysplasie · Akroosteolyse mit Osteoporose und Veränderungen der Knochen in Schädel und Unterkiefer · Akroosteolyse, autosomal-dominante · Cheney-Syndrom |
| es | Síndrome de Hajdu-Cheney | Acroosteólisis con osteoporosis y cambios en cráneo y mandíbula · Acroosteólisis tipo dominante · Artrodentoosteodisplasia · Sindrome de Cheney |
| it | Sindrome di Hajdu-Cheney | Acro-osteolisi con osteoporosi e alterazioni del cranio e della mandibola · Acro-osteolisi, tipo dominante · Displasia artro-dento-ossea · Sindrome di Cheney |
| nl | Syndroom van Hajdu-Cheney | Acro-osteolyse met osteoporose en veranderingen in schedel en onderkaak · Acro-osteolyse, dominant type · Artrodento-osteodysplasie · Syndroom van Cheney |
| pt | Síndrome Hajdu-Cheney | Acrosteólise tipo dominante · Artro-dento-osteodisplasia · Síndrome Cheney |
| pl | Akroosteoliza typu dominującego | Arthro-dento-ostéodysplasie · Akroosteoliza z osteopetrozą i zmianami w czaszce i żuchwie · Dysplazja kończynowo-zębowo-kostna · Dysplazja stawowo-zębowo-kostna · Zespół Cheney'a · Zespół Hajdu i Cheney'a |
| cs | Akroosteolýza, dominantní typ | Akrodentoosteodysplázie · Artrodentoosteodysplázie · Cheneyho syndrom · Akroosteolýza s osteoporózou a změnami lebky a dolní čelisti · Hajduův-Cheneyho syndrom · Hajdu-Cheneyho syndrom |
| uk | Синдром Хайду-Чейні | Домінуючий тип акроостеолізу · Акроостеоліз з остеопорозом і змінами в черепі та нижній щелепі · Артродентоостеодисплазія · Синдром Чейні |
| zh | 肢端骨质溶解外显型 | 肢端骨溶解症伴骨质疏松与颅骨、下颌骨改变 |
| tr | Akroosteoliz dominant tip | Cheney sendromu · Hajdu-Cheney sendromu · Akrodentoosteodisplazi · Artrodentoosteodisplazi · Osteoporoz ve kafatasında ve mandibulada değişiklikler ile seyreden akroosteoliz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 102400 | BTNT | validated | |
| OMIM | 102500 | E | validated | |
| ICD-10 | M89.5 | NTBT | attributed | validated |
| ICD-11 | FB86.2 | NTBT | index | validated |
| MONDO | 0007057 | E | validated | |
| MeSH | D031845 | E | validated | |
| UMLS | C0917715 | E | validated | |
| GARD | 508 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:93449Primary osteolysis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:486955Rare pediatric rheumatologic disease
rare systemic or rheumatologic diseases of childhood - ORPHA:182231Rare rheumatologic disease
rare systemic and rheumatological diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2853Serpentine fibula-polycystic kidneys syndrome moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NOTCH2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:7882 | ENSG00000134250 | 600275 | 1p12 | notch receptor 2 | 21378985[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 25491639[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25491639[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
86 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0004331 | Decreased skull ossification | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000316 | Hypertelorism | |
| HP:0000343 | Long philtrum | |
| HP:0000347 | Micrognathia | |
| HP:0002797 | Osteolysis | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0011305 | Partial absence of toe | |
| HP:0000704 | Periodontitis | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0004322 | Short stature | |
| HP:0001831 | Short toe | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0000574 | Thick eyebrow | |
| Frequent (79-30%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000277 | Abnormality of the mandible | |
| HP:0002688 | Absent frontal sinuses | |
| HP:0000463 | Anteverted nares | |
| HP:0002829 | Arthralgia | |
| HP:0004586 | Biconcave vertebral bodies | |
| HP:0002653 | Bone pain | |
| HP:0002308 | Chiari malformation | |
| HP:0000280 | Coarse facial features | |
| HP:0000268 | Dolichocephaly | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000293 | Full cheeks | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000365 | Hearing impairment | |
| HP:0008424 | Hypoplastic 5th lumbar vertebrae | |
| HP:0001382 | Joint hypermobility | |
| HP:0000256 | Macrocephaly | |
| HP:0000160 | Narrow mouth | |
| HP:0010807 | Open bite | |
| HP:0002691 | Platybasia | |
| HP:0000269 | Prominent occiput | |
| HP:0002757 | Recurrent fractures | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0000506 | Telecanthus | |
| HP:0000233 | Thin vermilion border | |
| HP:0000445 | Wide nose | |
| HP:0002645 | Wormian bones | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001608 | Abnormality of the voice | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0006487 | Bowing of the long bones | |
| HP:0000518 | Cataract | |
| HP:0000175 | Cleft palate | |
| HP:0002208 | Coarse hair | |
| HP:0000823 | Delayed puberty | |
| HP:0000958 | Dry skin | |
| HP:0001508 | Failure to thrive | |
| HP:0002315 | Headache | |
| HP:0002240 | Hepatomegaly | |
| HP:0100790 | Hernia | |
| HP:0000238 | Hydrocephalus | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0000047 | Hypospadias | |
| HP:0000023 | Inguinal hernia | |
| HP:0002566 | Intestinal malrotation | |
| HP:0000612 | Iris coloboma | |
| HP:0002808 | Kyphosis | |
| HP:0000294 | Low anterior hairline | |
| HP:0000369 | Low-set ears | |
| HP:0001718 | Mitral stenosis | |
| HP:0005562 | Multiple renal cysts | |
| HP:0000545 | Myopia | |
| HP:0002999 | Patellar dislocation | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000768 | Pectus carinatum | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0100670 | Rough bone trabeculation | |
| HP:0200042 | Skin ulcer | |
| HP:0001744 | Splenomegaly | |
| HP:0000664 | Synophrys | |
| HP:0003396 | Syringomyelia | |
| HP:0001072 | Thickened skin | |
| HP:0001537 | Umbilical hernia | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/955
- This record as JSON: /data/d/955.json