Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies/mental retardation (MCA/MR) syndrome caused by a defect in cholesterol synthesis. SLOS is an autosomal recessive genetic condition caused by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase (7-dehydrocholesterol-delta 7-reductase [DHCR7] EC 220.127.116.11), the final enzyme in the sterol synthetic pathway that converts 7-dehydrocholesterol (7DHC) to cholesterol.Here's another definition from the NIH's Genetics Home Reference:
Affected individuals usually have low plasma cholesterol levels and invariably have elevated levels of cholesterol precursors, including 7DHC. Severely affected individuals (those with the condition formerly referred to as SLOS type II) have multiple congenital malformations and are often miscarried or stillborn or die in the first weeks of life. Dysmorphic facial features, microcephaly, second- and third-toe syndactyly, other malformations, and MR are typical. Mildly affected individuals may have only subtle dysmorphic features and learning and behavioral disabilities.
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly).The first one is for the medically proficient. The second is for me.
The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely. Mildly affected individuals may have only minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening and involve profound intellectual disability and major physical abnormalities.
Great news for us needless to say. She continues to disprove all of medical science. (I still believe she's the next evolution of the human race.)
In other news, she's been getting her Human Growth Hormone treatments for 6 or 7 weeks now. One shot every day (I've given her exactly zero treatments). She's non-plussed by it. No crying, no wimpering, nothing. Lah lah lah. She could care less.
According to measurements last week, she's already grown 3/4 of an inch so far (I still can't tell). She continues to eat like a horse. Her favorite food of late are Cheetos (Chester Cheetah!).
And she's still an absolute joy. Kate's taken to climbing the stairs now because she wants me to throw her onto the bed (a good 4 feet of air). She's never climbed the stairs without one of us prodding her.
She's also very spoiled. She's just so darn cute and still looks like a baby or toddler, maybe 2 now? She's going on 4 1/2.
The other day at school the teacher gave her a tray to carry to the table. She looked up at the teacher, grinned, and dropped (threw) the tray. We've instructed the teacher to be more firm with her (because we're not) so she scolds her. Then the lunch lady jumps in and says, "She's just a baby!" So it's difficult for anyone to scold this little girl. I feel bad for her future husband already.
I'll leave you with the queen on her throne (Dora couch) and some basketball with grandpa: