Madisons Foundation - Moms And Dads In Search Of Needed Support

What

Hallermann Strieff syndrome (HSS) is a rare, genetic disorder that is characterized by dwarfism, unique facial appearance, dental abnormalities, eye abnormalities, and sparse bodily hair.

Who

The frequency of HSS is not known. There is a tendency for HSS to run in families however, most cases occur spontaneously. There is no racial predilection and occurs equally in males and females.

Signs and Symptoms

Children with HSS may exhibit all of the following:

• Characteristic facial appearance: short, broad head, prominent forehead, underdeveloped lower jaw, high arched roof of the mouth (palate), and thin, tapering nose.
• Eye abnormalities: small eyes, clouding of the lens of the eye (cataract) at birth, occasional abnormal eye movements (nystagmus)
• Prone to upper airway obstruction and obstructive sleep apnea.
• Feeding difficulties from associated narrowing of the nostrils (choanal stenosis/atresia).
• Dental abnormalities: teeth present at birth, malformed or poorly aligned teeth.
• Sparse distribution of body hair, eyebrows, eyelashes.
• Abnormal lateral curvature of the spine (scoliosis).
• Developmental delay
• Skin changes of the face – thin, dry, smooth, and covered with small blood vessels.

Possible Causes

The cause of HSS is not known. Current research is focused on studying defects in a protein called elastin as a potential cause.

Diagnosis

Making the diagnosis of HSS relies upon recognition of the characteristic facial features in addition to other associated findings listed above. There is no blood test or molecular genetic test (DNA) that can confirm the diagnosis. Your doctor may order the following blood tests to rule out other associated abnormalities: electrolytes, thyroid function tests, growth hormone levels. An X-ray of the left hand to determine the bone age is frequently performed, while a head MRI (magnetic resonance image) can be obtained to exclude any malformations of the brain.

Treatment

There is no cure for HSS. Treatment should be focused on involving necessary specialists (craniofacial surgeon, endocrinologist, ophthalmologist, dermatologist, pediatric dentist) to take a multidisciplinary approach. Close follow-up with a pediatric ophthalmologist is critical as the major handicaps in HSS are the eye anomalies that can lead to blindness. Early removal of cataracts is critical, because the cataract needs to be removed for normal sight pathways to develop in the brain. Surgical options for facial reconstruction can be explored with a craniofacial surgeon and should be performed early if airway obstruction is a major problem. Dermatologists can help care for skin atrophy while pediatric dentists may assist in removal of teeth at birth. Lastly, an endocrinologist will help determine if growth hormone replacement and other measures are indicated.

Prognosis

Most children with HSS have normal intelligence and with early intervention the quality of life and life span can be normal. Blindness from cataracts, respiratory infections and complications of chronic obstructive sleep apnea later in life are the most common long-term problems these children have.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

FACES: The National Craniofacial Association
National organization dedicated to the care of children with craniofacial dysmorphisms.

Children's Craniofacial Association
Another national organization with good parental resources, though there is no specific information on Hallermann Streiff syndrome.

NIH/National Eye Institute
Reliable source of information and guidance for dealing with blindness in children, though the information is about eye disorders in general.

National Association for Parents of the Visually Impaired
Parent centered website delivering useful resources and information about visual impairments in general.

Google Search for Hallermann Streiff Syndrome

References and Sources

Nicholson, A.D. and Menon, S. (1995). Hallerman-Streiff syndrome. J Postgrad Med. 41(1): 22-3.

Defraia, E., Marinelli, A., and Alarashi, M. (2003) Case report: orofacial characteristics of Hallermann-Streiff Syndrome. Eur J Paediatr Dent. 4(3): 155-8.