MEN (General Swiss-German Mennonite)

Inheritance: autosomal recessive
Genes: unknown

No alternate name

Hypotony
Alopecia
Osteopenia
Joint laxity
Hypertelorism
Fragile bones
Mental retardation

Osteopenia And Sparse Hair

Clinical Characteristics

General description (for patients): 

Thin bones, sparse hair and an unusual facies with frontal bossing and a prominent jaw have been described in a single family with 2 sisters affected.  Long bones were fragile with one sib suffering two leg fractures following minimal trauma.  Significant growth and mental retardation with motor delay were also features.

Medical description:  

The unusual features described in these two sibs born of a consanguineous mating suggest a recessive syndrome.  However, complicating such evidence for a ‘pure’ syndrome is the fact that three sibs also died in infancy with clinical and radiologic evidence of type II osteogenesis imperfect.  No molecular evidence exists to aid in the nosology.  Significant clinical features of this presumed disorder are hypotonia with joint laxity, sparse hair mental retardation, growth, and motor delay, skeletal fragility, and dysmorphic facial features including mandibular prognathism, frontal bossing and hyperterlorism.

Genetics:

This is a presumed autosomal recessive disorder based on the parental consanguinity.

Treatment:

Unknown.

Prognosis:

Unknown.

Ancillary treatments and support:

Gentle handling.

Specialists and specialty centers:

Orthopedist, Neurologist.

References:

Kaler, S.G., Garrity, A.M., Stern, H.J., Rosenbaum, K.N., Orrison, B.M., Marini, J.C., Bernardini, I., and Saal, H.M.  New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.  Am. J. Med. Genet. 43: 983-988, 1992.  PubMed ID: 1415349