Sabinas brittle hair and mental deficit syndrome

background

Sabinas brittle hair and mental deficit (SBHMD) syndrome is a rare inherited disease that results in brittle hair and nails and mild intellectual disability. The principal biochemical characteristics of the illness are reduced hair cystine levels, an increased copper:zinc ratio, and the presence of arginosuccinic acid in the blood and urine.
SBHMD syndrome received its name because it was first observed in a small town in Mexico called Sabinas. Some researchers believe that Sabinas syndrome is the same syndrome as Amish brittle hair syndrome and Pollitt syndrome, both of which also feature abnormal development of the hair and nails and mild intellectual disability.
SBHMD syndrome is an inherited genetic disorder, meaning that is passed down among family members. The exact genetic mutation or defect that causes SBHMD syndrome is unknown at this time. The disorder follows an autosomal recessive pattern of inheritance, meaning that two copies of the defective gene must be inherited for the disease to appear.
SBHMD syndrome is extremely rare, with only about 20 known cases. Its actual incidence is unknown. People with the disorder are likely to have parents who are consanguineous, or closely related. Because this condition does not affect any vital organs, it can be assumed that individuals with SBHMD syndrome can function normally, although they may exhibit mild intellectual disabilities.

Related Terms

Amish brittle hair syndrome, autosomal recessive inheritance, brittle hair and mental deficit, brittle hair-mental deficit syndrome, consanguineous, dysplastic nails, ectodermal dysplasia, hypotrichosis, ichthyosis, intellectual disability, nonphotosensitive trichothiodystrophy, Pollitt syndrome, Sabinas brittle hair syndrome, Sabinas syndrome, SBHMD syndrome.