Very rare diffuse connective tissue disorder with osteolysis involving mainly head
and musculoskeletal system.
Cheney Syndrome; Arthrodentoosteodysplasia; Osteopathia
Dysplastica Familiaris; Familial Osteodysplasia; Cranioskeletal Dysplasia
First described by N. Hajdu and R. Kauntze in 1948 and
later by W.D. Cheney in 1965.
Approximately 60 cases have been described.
Autosomal dominant. Sporadic cases apparently
represent new mutations.
Unknown. The disorder probably results from
defective development of bone rather than destruction of bone already
Based on the clinical findings of short stature, hand
pain, weakness, pathologic fractures, and distal osteolytic lesions.
The clinical phenotype is variable, and none of
the patients have all the signs mentioned in the following description. At
birth, many of these patients look normal or only show mild and unspecific
dysmorphic signs, such as downslanted palpebral fissures, flat and broad
nasal bridge, long philtrum, low-set ears, or hypertelorism. However, the
facial appearance changes over time, that is, they become coarser, not
starting before early or middle childhood. The diagnosis may be delayed
until the patient is in the second or even third decade, when they typically
present with swelling and pain of the fingers. The features of this disorder
may involve the head and neck (normal intelligence, although mild developmental delay has
been described in some cases), progressive hearing loss (one third of
patients), speech abnormalities, bathrocephaly (a form of posterior sagittal
synostosis), platybasia (basilar invagination, a developmental deformity
resulting from seemingly upward pushing of the cervical spine and
consecutive bulging of the occipital bone), multiple wormian bones, enlarged
pituitary fossa without endocrine abnormalities, open cranial sutures,
absent or hypoplastic frontal sinuses, low-set ears, midfacial flattening,
micrognathia or retrognathia (>50% of patients), cleft lip, high arched
or cleft palate, early loss of teeth, hypertelorism, limited neck movement)
and the musculoskeletal system (with short stature in >50% of patients), generalized
osteoporosis predisposing to multiple fractures, terminal phalangeal
acroosteolysis, cervical spine instability, vertebral anomalies (collapsed
“fishbone” vertebrae), kyphosis, scoliosis, and joint hyperextensibility
and dislocations. Other features are associated with the respiratory system (upper airway
obstruction, vocal cord paralysis, deep voice), the nervous system
[Arnold-Chiari Syndrome, hydrocephalus and cranial nerve damage (both possibly caused
by platybasia), mental retardation, sensory changes such as pain and
paresthesias may accompany the acroosteolytic lesions], the cardiovascular system (atrial and
ventricular septal defects, patent ductus arteriosus, mitral and aortic
valve disease, arterial hypertension), the genitourinary tract (cystic kidney disease in 14%
of patients), hypoplastic kidneys, glomerulonephritis, reflux nephropathy,
hypogonadism), the abdomen (intestinal malrotation, umbilical and inguinal hernias,
hepatosplenomegaly), and the skin (hirsutism in childhood, dry and coarse skin,
thick scalp hair). Although life expectancy reportedly has been normal in
these patients, the literature supporting this statement is insufficient.
The stability of the cervical spine
should be assessed clinically and radiologically. Echocardiography should be
obtained if cardiac lesions are suspected. The presence of hydrocephalus
with increased ...