What Is HCS?
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.
|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|