Hajdu-cheney syndrome

Preferred Label : Hajdu-cheney syndrome;

Symbol : HJCYS;

CISMeF acronym : SFPKS; HJCYS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cheney syndrome; SFPKS; Serpentine fibula-polycystic kidney syndrome; ARTHRODENTOOSTEODYSPLASIA; Acroosteolysis with osteoporosis and changes in skull and mandible;

Description : Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the notch receptor 2 gene (NOTCH2, 600275.0003);

Prefixed ID : #102500;

Details

Origin ID

102500;

UMLS CUI

C0917715;

Automatic exact mappings (from CISMeF team)
- Acroosteolysis, dominant type [ICD-11 More detail]
- Hajdu-Cheney syndrome [DO Concept]
- NOTCH2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Acroosteolysis dominant type [MeSH concept]
- Hajdu Cheney syndrome [Disease (Nov.)]
- Hajdu-Cheney Syndrome [NCIt concept]
- Hajdu-Cheney syndrome [ORDO Disease]
- Hajdu-Cheney syndrome [MeSH concept]
- Hajdu-Cheney syndrome (disorder) [SNOMED CT concept]
- acroosteolysis dominant type [MeSH Supplementary Concept]
- hajdu-cheney syndrome [MeSH Descriptor]
- hajdu-cheney syndrome [SNOMED Notion]
DO Cross reference
- Hajdu-Cheney syndrome [DO Concept]
False automatic mappings
- Serpentine fibula polycystic kidney syndrome [MeSH concept]
- serpentine fibula polycystic kidney syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Notch receptor 2 [OMIM gene]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Absent frontal sinuses [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Basilar impression [HPO term]
- Biconcave vertebral bodies [HPO term]
- Cervical instability [HPO term]
- Coarse facial features [HPO term]
- Conductive hearing impairment [HPO term]
- Crowded carpal bones [HPO term]
- Cryptorchidism [HPO term]
- Dental malocclusion [HPO term]
- Dislocated radial head [HPO term]
- Downslanted palpebral fissures [HPO term]
- Elongated sella turcica [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Foot acroosteolysis [HPO term]
- Full cheeks [HPO term]
- Genu valgum [HPO term]
- Genu varus [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hirsutism [HPO term]
- Hydrocephalus [HPO term]
- Hypospadias [HPO term]
- Inguinal hernia [HPO term]
- Intestinal malrotation [HPO term]
- Joint laxity [HPO term]
- Kyphoscoliosis [HPO term]
- Large earlobe [HPO term]
- Long eyelashes [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Osteolytic defects of the phalanges of the hand [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Patent ductus arteriosus [HPO term]
- Pathologic fracture [HPO term]
- Premature loss of teeth [HPO term]
- Prominent ear lobes [HPO term]
- Renal cyst [HPO term]
- Short nail [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Synophrys [HPO term]
- Tall lumbar vertebral bodies [HPO term]
- Telecanthus [HPO term]
- Thick eyebrow [HPO term]
- Umbilical hernia [HPO term]
- Vertebral compression fracture [HPO term]
- Wide nose [HPO term]
- Wormian bones [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Hajdu-Cheney syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hajdu Cheney syndrome [Disease (Nov.)]
- Hajdu-Cheney Syndrome [NCIt concept]
- Hajdu-Cheney syndrome [MeSH concept]
- Hajdu-Cheney syndrome (disorder) [SNOMED CT concept]
- hajdu-cheney syndrome [SNOMED Notion]
- hajdu-cheney syndrome [MeSH Descriptor]

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