Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, Melnick-Needles syndrome, and terminal osseous dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and bony abnormalities involving various areas of the skeleton.

Frontometaphyseal dysplasia is distinguished from the other otopalatodigital spectrum disorders by the presence of joint deformities called contractures that restrict the movement of certain joints. People with frontometaphyseal dysplasia may also have bowed limbs, an abnormal curvature of the spine (scoliosis), and abnormalities of the fingers and hands.

Characteristic facial features may include prominent brow ridges; wide-set and downward-slanting eyes; a very small lower jaw and chin (micrognathia); and small, missing, or misaligned teeth. Some affected individuals have hearing loss.

In addition to skeletal abnormalities, individuals with frontometaphyseal dysplasia may have obstruction of the ducts between the kidneys and bladder (ureters), heart defects, or constrictions in the passages leading from the windpipe to the lungs (the bronchi) that can cause problems with breathing.

There are three types of frontometaphyseal dysplasia, known as type 1, type 2, and type 3. The three types differ in their genetic cause and the way they are inherited.

In general, males tend to be more severely affected than females. Females may present with the characteristic craniofacial features and scoliosis. The main symptoms in males include:

• Skeletal dysplasia (enlargement of the bones in the frontal part of the skull, skull base sclerosis, as well as in the medial part (diaphysis) of the long bones and the part between the diaphysis and the end parts of the bones, small tips of the bones of the fingers)
• Progressive contractures of the hand and other bones of the body over the first 20 years resulting in limited movement of the hand, fingers, wrists, elbows, knees, and ankles
• Scoliosis
• Limb bowing
• Deformed fingers
• Facial dysmorphism (big frontal, wide-spaced eyes, down-slanting eye slits, broad nose bridge and tip, small or less teeth than normal and occasionally craniosynostosis (when the sutures of the skull closed too early))
• Hearing loss.

Other features include congenital heart malformation, congenital subglottic stenosis (narrowing of the airways), a slender body, with underdeveloped muscles around the shoulders and in the inside of the hands. Males with frontometaphyseal dysplasia can present with obstruction of the ducts connecting the ureters with bladder and enlarged kidneys (hydronephrosis). Intelligence is normal.

Treatment depends on the symptoms present in the person, and may include:

• Hearing loss aids for deafness
• Surgery to correct the facial deformities including the frontal deformity
• Surgery to correct the joint contractures, the limb bowing, and the scoliosis.