<%@LANGUAGE="JAVASCRIPT" CODEPAGE="1252"%> What Is Hajdu-Cheney Syndrome
Our web site is being constantly updated as we find more families or get additional information on HCS. Please check back often.
Our Goal Is To:
How This Site Came About
A Little About HCS
Media Coverage
Help!!!
Email Us
 
Introducing

Jennifer


Rachel


Ryan


Roger



Moira

A Special Poem

What Is Hajdu-Cheney Syndrome?

Hajdu-Cheney Syndrome is a rare connective tissue disorder. Connective tissue is strong fibrous tissue that supports and joins other body tissues and parts. Abnormal development of bones, joints, and teeth also occurs. A decrease in bone mass and changes in the skull and jawbone are also features of this syndrome.

An osteolytic syndrome with skull deformities, characteristics facies, osteoporosis, premature loss of teeth, joint laxity, short stature, dissolution of the terminal phalanges, hearing loss, and a hoarse voice. Most patients have a normal mental development but some are mildly retarded.

Common Traits:

Head and Neck Macrocephaly, enlarged supraorbital ridges, basilar invagination, squamous protuberance of occipital bone, bathrocephaly, dolichocephaly, wide cranial sutures, wormian bones, depression of anterior fontanels, dysgenesis or genesis of frontal sinuses, enlarged and J-shaped sella turcica, position of mandibular condyles anterior to glenoid fossae, resorption of condylar heads or mandibular rami, absent mandibular chin button, midfacial hypoplasia, and mandibular micrognathia.
Ears Low-set malformed ears
Eyes Cataract, nystagmus, exophthalmos, hypertelorism, epicanthal folds, abducent palsy, disk pallor, optic atrophy, synophrys, and thick coarse eyebrows.
Nose Resorption of anterior nasal spine and short philtrum
Mouth and Oral Structures Highly arched palate, uvular abnormalities, cleft palate, malocclusion, and missing and loose teeth
Neck Short neck with limitation of extension and flexion
Thorax Compression and osteoporosis of ribs
Abdomen Umbilical and inguinal hernia
Hand and Foot Club foot, acro-osteolysis with short distal portions of fingers and toes and broad stubby fingers, narrowing of metacarpophalangeal and metatarsophalangeal spaces, osetolysis of radius, and hyperflexible interphalangeal joints.
Extremities Joint laxity, genu valgum, curving of tibiae and fibulae, fractures, and hip and joint dislocations
Spine Compression fractures, fish-bone vertebrae, dense intervertebral disks, fission of vertebrae, and kyphosis or scoliosis
Bones and Joints Osteoporosis
Skin Appendages Generalized hirsutism with thick and coarse scalp hair and, hairline on forehead and nape, and wide nails
Nervous System Impaction of cerebellum into foramen magnum, occipital headache, hydrocephaly, and progressive involvement of cranial nerves
Cardiovascular System Patent Ductus arteriosus, ventricular septal defect, atrial septal defect, and hypertension
Respiratory System Upper airway obstruction
Gastrointestinal System Intestinal malrotation. Hepatomegaly
Urogenital System Glomerulonephritis, kidney cysts, urinary reflux, hypogonadism, cryptorchidism, and hypospadias
Hematopoietic System Splenomegaly, Development: growth, motor and mental retardation
Behavior and Performance Myopia, deafness, gruff or high-pitched voice

©2009 Diane Graham and www.hajdu-cheney.com
site design by www.darkroom-designs.com