Smith-Lemli-Opitz syndrome

(redirected from 7-dehydrocholesterol reductase deficiency)

Smith-Lemli-Opitz syndrome

 [smith´lem´le o´pitz]
a hereditary syndrome, transmitted as an autosomal recessive trait, characterized by microcephaly, mental retardation, hypotonia, incomplete development of male genitalia, short nose with anteverted nostrils, and syndactyly of the second and third toes.

Smith-Lem·li-O·pitz syn·drome

(smith lem'lē ō'pits), [MIM*270400]
mental retardation, small stature, anteverted nostrils, ptosis, male genital anomalies, and syndactyly of the second and third toes, often in breech-born babies with delayed fetal activity; inherited as an autosomal recessive trait.

Smith-Lem·li-O·pitz syn·drome

(smith lem'lē ō'pits), [MIM*270400]
mental retardation, small stature, anteverted nostrils, ptosis, male genital anomalies, and syndactyly of the second and third toes, often in breech-born babies with delayed fetal activity; inherited as an autosomal recessive trait.

Smith-Lemli-Opitz syndrome

Neonatology A rare AR condition characterized by multiorgan birth defects, with microcephaly, hypotonia, dysmorphic facies–short nose with anteverted nares, ptosis of eyelids, micrognathia, poly- and/or syndactyly, ♂ genital disorders–cryptorchidism, hypospadias, endocrine defects, cataracts, cardiac and renal malformations, major mental retardation, FTT, high infant mortality Lab ↓ Cholesterol in < 5th percentile, ↑–2000 x normal cholesterol precursor 7-dehydrocholesterol–detected by GC which may be incorporated into cell membranes, interfering with proper functioning

Lemli,

Luc, 20th century U.S. pediatrician.
Smith-Lemli-Opitz syndrome - see under Smith, David W

Opitz,

John Marius, U.S. pediatrician, 1935–.
Opitz-Frias syndrome - males affected from birth; swallowing problems with recurrent aspiration, stridorous breathing, and hoarse cry.
Opitz-Kaveggia syndrome - in males; X-linked recessive syndrome of multiple congenital anomalies and mental retardation.
Smith-Lemli-Opitz syndrome - see under Smith, David W

Smith,

David W., U.S. pediatrician, 1926-1981.
Marshall-Smith syndrome - Synonym(s): Marshall syndrome
Mulvihill-Smith syndrome - see under Mulvihill-J
Smith-Lemli-Opitz syndrome - mental retardation, small stature, anteverted nostrils, ptosis, male genital anomalies, and syndactyly of the second and third toes.
References in periodicals archive ?
First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency).