What is Hadju-Cheney syndrome (HJCYS)?
This rare disease is a congenital syndrome that presents with a variety of symptoms depending on the individual affected.
The main symptoms of the syndrome affect the skull and bones of the fingers and toes. In some individuals, the neurological system may also be affected.
There is still much to be known about this rare condition in terms of its syndromes and diagnosis.
This syndrome is also known as:
Acroosteolysis with Osteoporosis and Changes in Skull and Mandible; Arthrodentoosteodysplasia; Cheney Syndrome; Serpentine Fibula-polycystic Kidney Syndrome; SFPKS
What gene change causes Hadju-Cheney syndrome (HJCYS)?
Changes to the NOTCH2 gene are responsible for the syndrome. It is inherited in an autosomal dominant pattern but many diagnosed cases are de novo.
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
What are the main symptoms of Hadju-Cheney syndrome (HJCYS)?
Symptoms of the syndrome may vary widely between individuals. Some of the more common symptoms include a breakdown of the outermost bones of the fingers and toes.
Skull abnormalities, joint laxity (joints are too loose), osteoporosis and a short stature may be symptoms of the syndrome too.
In some cases the syndrome may affect the neurological system, the heart, and the kidneys and urinary tract.
Possible clinical traits/features:
Osteolytic defects of the phalanges of the hand, Osteoporosis, Autosomal dominant inheritance, Large earlobe, Short neck, Renal cyst, Patent ductus arteriosus, Pathologic fracture, Umbilical hernia, Premature loss of teeth, Tall lumbar vertebral bodies, Synophrys, Telecanthus, Thick eyebrow, Wormian bones, Vertebral compression fractures, Short nail, Wide nose, Cervical instability, Biconcave vertebral bodies, Abnormal cardiac septum morphology, Absent frontal sinuses, Foot acroosteolysis, Hypospadias, Hirsutism, High palate, Hydrocephalus, Short stature, Basilar impression, Full cheeks, Genu valgum, Anteverted nares, Intellectual disability, Intestinal malrotation, Inguinal hernia, Long eyelashes, Long philtrum, Low-set ears, Kyphoscoliosis, Joint laxity, Micrognathia, Osteopenia, Dental malocclusion, Dislocated radial head, Crowded carpal bones, Cryptorchidism, Coarse facial features, Failure to thrive, Elongated sella turcica, Epicanthus, Conductive hearing impairment, Downslanted palpebral fissures.
How is Hadju-Cheney syndrome (HJCYS) diagnosed?
To find out if someone has a diagnosis of Hadju-Cheney syndrome (HJCYS), it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
