Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome, also called SOFT syndrome, is a recently discoverd genetic disorder. SOFT syndrome is featuring severely short long bones, peculiar faces associated with paucity of hair, and nail anomalies.
People with SOFT syndrome have a host of symptoms represented by the acrostic, including: disproportionately short stature, clinical skeletal (S) and nonskeletal manifestations; abnormal nails (onychodystrophy or O); unusual facial traits (facial dysmorphism or F); and sparse hair (hypotrichosis or T). Children with the syndrome reach their maximum height between the age of six to eight years. Their head circumference is small and they have a long, triangular face with a prominent nose.
They often also have unusually high-pitched voices, small ears and abnormal fingers, although their psychomotor development is normal.
The syndrome is due to a homozygous point mutation (c.512T>C [p.Leu171Pro]) in POC1A (centriolar protein homolog A), which was found to cosegregate with the disease phenotype in two families where the syndrome was detected.
The disorder causes retardation in fetal growth that is clear via ultrasound. Couples aware of the existence of the syndrome in their family will now be able to take advantage of prenatal genetic diagnosis.
Haplotype analysis with polymorphic markers in chromosomal region 3q21 reveals a homozygous haplotype shared by all affected individuals. The PCR-RFLP (restriction fragment-length polymorphism) analysis will show that the c.512T>C substitution generates a recognition site for BtgI, as unaffected individuals display a single fragment of 353 bp, while individuals affected with SOFT syndrome show two fragments of 200 and 175 bp, and all three fragments are found in heterozygous carriers of the mutation.