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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

My opia, deafness, gruff or high-pitched voice