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.

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

  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