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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.
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.
Low-set malformed ears
Cataract, nystagmus, exophthalmos, hypertelorism, epicanthal folds, abducent palsy, disk pallor, optic atrophy, synophrys, and thick coarse eyebrows.
Resorption of anterior nasal spine and short philtrum
Highly arched palate, uvular abnormalities, cleft palate, malocclusion, and missing and loose teeth
Short neck with limitation of extension and flexion
Compression and osteoporosis of ribs
Umbilical and inguinal hernia
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.
Joint laxity, genu valgum, curving of tibiae and fibulae, fractures, and hip and joint dislocations
Compression fractures, fish-bone vertebrae, dense intervertebral disks, fission of vertebrae, and kyphosis or scoliosis
Generalized hirsutism with thick and coarse scalp hair and, hairline on forehead and nape, and wide nails
Impaction of cerebellum into foramen magnum, occipital headache, hydrocephaly, and progressive involvement of cranial nerves
Patent Ductus arteriosus, ventricular septal defect, atrial septal defect, and hypertension
Upper airway obstruction
Intestinal malrotation. Hepatomegaly
Glomerulonephritis, kidney cysts, urinary reflux, hypogonadism, cryptorchidism, and hypospadias
Splenomegaly, Development: growth, motor and mental retardation
My opia, deafness, gruff or high-pitched voice