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Smith-Lemli-Opitz syndrome(SLOS)

MedGen UID:
61231
Concept ID:
C0175694
Congenital Abnormality; Disease or Syndrome
Synonyms: 7-Dehydrocholesterol reductase deficiency; LETHAL ACRODYSGENITAL SYNDROME; POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG; RSH syndrome; RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME; SLO syndrome type 1; SLOS; Smith-Lemli-Opitz syndrome type 1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, Orphanet
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: 7-Dehydrocholesterol reductase deficiency (43929004); Smith-Lemli-Opitz syndrome (43929004)
 
Gene (location): DHCR7 (11q13.4)
OMIM®: 270400
Orphanet: ORPHA818

Disease characteristics

Excerpted from the GeneReview: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth retardation, microcephaly, moderate to severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide and individuals have been described with normal development and only minor malformations. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Malgorzata JM Nowaczyk   view full author information

Additional descriptions

From OMIM
Smith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital malformation and mental retardation syndrome. Although historically a clinical distinction was often made between a classic 'type I' disorder and a more severe 'type II' disorder, in reality the syndrome constitutes a clinical and biochemical continuum from mild to severe (Opitz et al., 1987; Cunniff et al., 1997; Kelley, 1998). The discovery of the deficiency of 7-dehydrocholesterol reductase as a causative factor of the SLO syndrome (Tint et al., 1994) made this syndrome the first true metabolic syndrome of multiple congenital malformations. A multidisciplinary National Institute of Child Health and Human Development (NICHD) conference of the SLO syndrome reviewed different implications of this discovery and proposed further studies in this field. A detailed report on this conference and abstracts of presentations were provided by Opitz and de la Cruz (1994). Observations presented at an NICHD RSH/SLOS conference in September 1995 were reviewed by Kelley (1997). Kelley (1998) referred to SLOS as a metabolic malformation syndrome, but suggested that this may be an exception. Most mutations that had been related to multiple congenital malformation syndromes, i.e., disturbances of the body plan, have not been disorders of intermediary metabolism but, instead, mutations of homeobox genes and other transcriptional regulators and signaling systems. Opitz et al. (1987) gave a presumedly complete bibliography of the SLO syndrome, which was updated by Opitz et al. (1994) and included almost 200 references. They concluded that lumping SLO syndrome with the Pallister-Hall hamartoblastoma syndrome (PHS; 146510) is not justified. In a given severe case, differentiation from the Meckel syndrome (249000) may be a challenge. Herman (2003) reviewed the cholesterol biosynthetic pathway and the 6 disorders involving enzyme defects in post-squalene cholesterol biosynthesis: SLOS, desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM; 215140).  http://www.omim.org/entry/270400
From GHR
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 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.  http://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome

Clinical features

Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Sign or Symptom
Slower than normal rate of weight increase.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Intrauterine growth retardation
MedGen UID:
342890
Concept ID:
C1853481
Finding
Facial capillary hemangioma
MedGen UID:
347662
Concept ID:
C1858545
Finding
Renal hypoplasia
MedGen UID:
57623
Concept ID:
C0156247
Finding
Renal agenesis
MedGen UID:
98089
Concept ID:
C0426706
Finding
Abnormality of the ureter
MedGen UID:
374455
Concept ID:
C1840382
Finding
Renal hypoplasia/aplasia
MedGen UID:
387822
Concept ID:
C1857453
Finding
Renal cyst
MedGen UID:
776573
Concept ID:
C2173677
Finding
A cyst is a fluid-filled sac. There are two types of kidney cysts. . Polycystic kidney disease (PKD) runs in families. In PKD, the cysts take the place of the normal tissue. They enlarge the kidneys and make them work poorly, leading to kidney failure. When PKD causes kidneys to fail - which usually happens after many years - people need dialysis or kidney transplantation. About half of people with the most common type of PKD end up with kidney failure. PKD also causes cysts in other parts of the body, such as the liver. . Symptoms of PKD include. -Pain in the back and lower sides. -Headaches. -Urinary tract infections. -Blood in the urine. Doctors diagnose PKD with imaging tests and family history. Treatments include medications, and, when people with PKD develop kidney failure, dialysis or kidney transplants. Acquired cystic kidney disease (ACKD) usually happens in people who are on dialysis. Unlike PKD, the kidneys are normal sized, and cysts do not form in other parts of the body. People with ACKD already have chronic kidney disease when they develop cysts. ACKD often has no symptoms. In most cases, the cysts are harmless and do not need treatment. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Multicystic kidney dysplasia
MedGen UID:
504299
Concept ID:
CN000004
Finding
Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Scrotal hypoplasia
MedGen UID:
500880
Concept ID:
CN000046
Finding
Hypospadias
MedGen UID:
504317
Concept ID:
CN000047
Finding
Displacement of the urethral opening on the ventral (inferior) surface of the penis.
Bifid scrotum
MedGen UID:
504318
Concept ID:
CN000048
Finding
Midline indentation or cleft of the scrotum.
Micropenis
MedGen UID:
504321
Concept ID:
CN000054
Finding
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Abnormality of female external genitalia
MedGen UID:
446335
Concept ID:
CN000055
Finding
An abnormality of the female external genitalia.
Ambiguous genitalia
MedGen UID:
504323
Concept ID:
CN000062
Finding
A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.
Ureteropelvic junction obstruction
MedGen UID:
504330
Concept ID:
CN000074
Finding
Blockage of urine flow from the renal pelvis to the proximal ureter.
Hydronephrosis
MedGen UID:
504353
Concept ID:
CN000122
Finding
Severe distention of the kidney with dilation of the renal pelvis and calices.
Bicornuate uterus
MedGen UID:
504608
Concept ID:
CN000760
Finding
The presence of a bicornuate uterus.
Septate vagina
MedGen UID:
504750
Concept ID:
CN001085
Finding
The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.
Hypoplasia of penis
MedGen UID:
506256
Concept ID:
CN007685
Finding
Abnormal localization of kidney
MedGen UID:
451874
Concept ID:
CN117435
Finding
An abnormal site of the kidney.
Displacement of the external urethral meatus
MedGen UID:
451918
Concept ID:
CN117519
Finding
A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Microglossia
MedGen UID:
96115
Concept ID:
C0426492
Finding
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Epicanthus
MedGen UID:
724513
Concept ID:
C1303004
Finding
Narrow forehead
MedGen UID:
326408
Concept ID:
C1839127
Finding
Anteverted nares
MedGen UID:
339940
Concept ID:
C1853244
Finding
Facial capillary hemangioma
MedGen UID:
347662
Concept ID:
C1858545
Finding
Proptosis
MedGen UID:
350667
Concept ID:
C1862425
Finding
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Downslanted palpebral fissures
MedGen UID:
400661
Concept ID:
C1865016
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Bifid tongue
MedGen UID:
776572
Concept ID:
C2144663
Finding
Abnormality of the eyelashes
MedGen UID:
382526
Concept ID:
C2675111
Finding
Wide mouth
MedGen UID:
504368
Concept ID:
CN000150
Finding
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Cleft palate
MedGen UID:
504379
Concept ID:
CN000170
Finding
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Broad alveolar ridges
MedGen UID:
500884
Concept ID:
CN000182
Finding
Gingival overgrowth
MedGen UID:
504394
Concept ID:
CN000205
Finding
Hyperplasia of the gingiva (FMA:59762, that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Wide nasal bridge
MedGen UID:
504442
Concept ID:
CN000404
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Choanal atresia
MedGen UID:
504447
Concept ID:
CN000423
Finding
Absence or abnormal closure of the choana (the posterior nasal aperture).
Upslanted palpebral fissure
MedGen UID:
504509
Concept ID:
CN000546
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Dental crowding
MedGen UID:
504553
Concept ID:
CN000638
Finding
Overlapping teeth within an alveolar ridge.
Abnormality of dental enamel
MedGen UID:
427814
Concept ID:
CN000641
Finding
An abnormality of the dental enamel.
Dandy-Walker malformation
MedGen UID:
504796
Concept ID:
CN001196
Finding
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Depressed nasal bridge
MedGen UID:
446656
Concept ID:
CN004681
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Advanced eruption of teeth
MedGen UID:
505902
Concept ID:
CN005482
Finding
Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.
Abnormality of dental morphology
MedGen UID:
428219
Concept ID:
CN005644
Finding
An abnormality of the morphology of the tooth.
Reduced number of teeth
MedGen UID:
429449
Concept ID:
CN008661
Finding
The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.
Aplasia/Hypoplasia of the tongue
MedGen UID:
429539
Concept ID:
CN009127
Finding
Absence or underdevelopment of the tongue.
Increased number of teeth
MedGen UID:
506432
Concept ID:
CN116800
Finding
The presence of a supernumerary, i.e., extra, tooth or teeth.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.
Proptosis
MedGen UID:
350667
Concept ID:
C1862425
Finding
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Glaucoma
MedGen UID:
409541
Concept ID:
C1962986
Finding
Nystagmus
MedGen UID:
409575
Concept ID:
C1963184
Finding
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Iris coloboma
MedGen UID:
504523
Concept ID:
CN000574
Finding
A coloboma of the iris.
Sclerocornea
MedGen UID:
504536
Concept ID:
CN000608
Finding
A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.
Optic atrophy
MedGen UID:
504537
Concept ID:
CN000609
Finding
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Aplasia/Hypoplasia affecting the eye
MedGen UID:
446891
Concept ID:
CN007083
Finding
Recurrent otitis media
MedGen UID:
332967
Concept ID:
C1837887
Finding
Posteriorly rotated ears
MedGen UID:
336584
Concept ID:
C1849365
Finding
Low-set, posteriorly rotated ears
MedGen UID:
387834
Concept ID:
C1857486
Finding
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A decreased magnitude of the sensory perception of sound.
Low-set ears
MedGen UID:
504425
Concept ID:
CN000345
Finding
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Sleep-wake cycle disturbance
MedGen UID:
371548
Concept ID:
C1833362
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Periventricular gray matter heterotopia
MedGen UID:
376104
Concept ID:
C1847341
Finding
Hypoplasia of the corpus callosum
MedGen UID:
342925
Concept ID:
C1853617
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Hydrocephalus
MedGen UID:
369747
Concept ID:
C1963137
Finding
Self-mutilation
MedGen UID:
378383
Concept ID:
C2242914
Finding
Autism
MedGen UID:
504569
Concept ID:
CN000674
Finding
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Aggressive behavior
MedGen UID:
504570
Concept ID:
CN000675
Finding
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
Hyperactivity
MedGen UID:
504585
Concept ID:
CN000708
Finding
Dandy-Walker malformation
MedGen UID:
504796
Concept ID:
CN001196
Finding
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Holoprosencephaly
MedGen UID:
504813
Concept ID:
CN001246
Finding
Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.
Ventriculomegaly
MedGen UID:
505112
Concept ID:
CN001919
Finding
An increase in size of the ventricular system of the brain.
Aganglionic megacolon
MedGen UID:
505171
Concept ID:
CN002042
Finding
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Sleep disturbance
MedGen UID:
505212
Concept ID:
CN002143
Finding
An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
Reduced consciousness/confusion
MedGen UID:
446594
Concept ID:
CN003871
Finding
Attention deficit hyperactivity disorder
MedGen UID:
506017
Concept ID:
CN006126
Finding
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Hypoplasia of the frontal lobes
MedGen UID:
501027
Concept ID:
CN006417
Finding
Underdevelopment of the frontal lobe of the cerebrum.
Aplasia/Hypoplasia of the cerebellum
MedGen UID:
429099
Concept ID:
CN006441
Finding
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
425895
Concept ID:
CN006451
Finding
Absence or underdevelopment of the corpus callosum.
Self-injurious behavior
MedGen UID:
506521
Concept ID:
CN117607
Finding
Aggression towards oneself.
Abnormality of the nipple
MedGen UID:
824919
Concept ID:
C3839073
Finding
Precocious puberty
MedGen UID:
18752
Concept ID:
C0034013
Disease or Syndrome
Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE.
Ulnar deviation of finger
MedGen UID:
68543
Concept ID:
C0231679
Finding
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Abnormal form of the vertebral bodies
MedGen UID:
374194
Concept ID:
C1839326
Finding
Kyphosis
MedGen UID:
335104
Concept ID:
C1845112
Finding
Finger syndactyly
MedGen UID:
376634
Concept ID:
C1849671
Finding
2-3 toe syndactyly
MedGen UID:
400146
Concept ID:
C1862857
Finding
Proximal placement of thumb
MedGen UID:
356033
Concept ID:
C1865572
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Postaxial foot polydactyly
MedGen UID:
384489
Concept ID:
C2112129
Finding
Aplasia/Hypoplasia of the radius
MedGen UID:
411844
Concept ID:
C2749463
Finding
Abnormality of dental enamel
MedGen UID:
427814
Concept ID:
CN000641
Finding
An abnormality of the dental enamel.
Abnormality of the ribs
MedGen UID:
427835
Concept ID:
CN000726
Finding
An anomaly of the rib.
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Postaxial hand polydactyly
MedGen UID:
427858
Concept ID:
CN001092
Finding
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Abnormality of the metacarpal bones
MedGen UID:
427859
Concept ID:
CN001093
Finding
An abnormality of the metacarpal bones.
Split hand
MedGen UID:
504754
Concept ID:
CN001098
Finding
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Dandy-Walker malformation
MedGen UID:
504796
Concept ID:
CN001196
Finding
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Hammertoe
MedGen UID:
504946
Concept ID:
CN001605
Finding
Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
Toe syndactyly
MedGen UID:
504947
Concept ID:
CN001609
Finding
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Short toe
MedGen UID:
500911
Concept ID:
CN001658
Finding
A toe that appears disproportionately short compared to the foot.
Metatarsus adductus
MedGen UID:
504970
Concept ID:
CN001665
Finding
The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Overlapping toe
MedGen UID:
504973
Concept ID:
CN001669
Finding
Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Hip dislocation
MedGen UID:
505364
Concept ID:
CN002553
Finding
Displacement of the femur from its normal location in the hip joint.
Micromelia
MedGen UID:
505428
Concept ID:
CN002699
Finding
The presence of abnormally small extremities.
Abnormality of the hip bone
MedGen UID:
425136
Concept ID:
CN002954
Finding
An abnormality of the hip bone.
Short thumb
MedGen UID:
429443
Concept ID:
CN008636
Finding
Hypoplasia (congenital reduction in size) of the thumb.
Epiphyseal stippling
MedGen UID:
429599
Concept ID:
CN009481
Finding
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses (FMA:24012).
Hip Subluxation
MedGen UID:
830616
Concept ID:
CN218479
Finding
A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.
Decreased fetal movement
MedGen UID:
68618
Concept ID:
C0235659
Finding
Breech presentation
MedGen UID:
322085
Concept ID:
C1832980
Finding
Premature birth
MedGen UID:
776559
Concept ID:
C2028283
Finding
Polyhydramnios
MedGen UID:
504854
Concept ID:
CN001423
Finding
The presence of excess amniotic fluid in the uterus during pregnancy.
Increased nuchal translucency
MedGen UID:
451183
Concept ID:
CN116614
Finding
The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination).
Pyloric stenosis
MedGen UID:
18780
Concept ID:
C0034194
Finding
Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.
Gastrointestinal dysmotility
MedGen UID:
324638
Concept ID:
C1836923
Finding
Poor suck
MedGen UID:
324693
Concept ID:
C1837142
Finding
Constipation
MedGen UID:
368096
Concept ID:
C1963087
Finding
Vomiting
MedGen UID:
776588
Concept ID:
C2712332
Finding
Intestinal malrotation
MedGen UID:
440888
Concept ID:
C2749839
Finding
Congenital diaphragmatic hernia
MedGen UID:
500895
Concept ID:
CN000730
Finding
The presence of a hernia of the diaphragm present at birth.
Abnormality of the spleen
MedGen UID:
425070
Concept ID:
CN001587
Finding
An abnormality of the spleen.
Gastroesophageal reflux
MedGen UID:
505057
Concept ID:
CN001828
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Aganglionic megacolon
MedGen UID:
505171
Concept ID:
CN002042
Finding
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Cholestatic liver disease
MedGen UID:
505293
Concept ID:
CN002373
Finding
Abnormality of the gallbladder
MedGen UID:
428512
Concept ID:
CN004666
Finding
An abnormality of the gallbladder.
Severe photosensitivity
MedGen UID:
341399
Concept ID:
C1849186
Finding
Facial capillary hemangioma
MedGen UID:
347662
Concept ID:
C1858545
Finding
Abnormality of the eyelashes
MedGen UID:
382526
Concept ID:
C2675111
Finding
Hypopigmentation of hair
MedGen UID:
480031
Concept ID:
C3278401
Finding
Eczema
MedGen UID:
504663
Concept ID:
CN000902
Finding
Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.
Cutis marmorata
MedGen UID:
500896
Concept ID:
CN000903
Finding
A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather.
Cutaneous photosensitivity
MedGen UID:
428240
Concept ID:
CN000929
Finding
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
Abnormal dermatoglyphics
MedGen UID:
446825
Concept ID:
CN006555
Finding
An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.
Coarctation of aorta
MedGen UID:
341320
Concept ID:
C1848852
Finding
Facial capillary hemangioma
MedGen UID:
347662
Concept ID:
C1858545
Finding
Ventricular septal defect
MedGen UID:
347827
Concept ID:
C1859213
Finding
Cutis marmorata
MedGen UID:
500896
Concept ID:
CN000903
Finding
A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather.
Defect in the atrial septum
MedGen UID:
504879
Concept ID:
CN001485
Finding
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Patent ductus arteriosus
MedGen UID:
504886
Concept ID:
CN001496
Finding
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Complete atrioventricular canal defect
MedGen UID:
504903
Concept ID:
CN001523
Finding
A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.
Elevated 7-dehydrocholesterol
MedGen UID:
376537
Concept ID:
C1849185
Finding
Abnormality of lipid metabolism
MedGen UID:
428327
Concept ID:
CN002813
Finding
An abnormality in the of lipid metabolism.
Hypocholesterolemia
MedGen UID:
505465
Concept ID:
CN002838
Finding
An decreased concentration of cholesterol in the blood.
Increased nuchal translucency
MedGen UID:
451183
Concept ID:
CN116614
Finding
The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination).
Pulmonary hypoplasia
MedGen UID:
383664
Concept ID:
C1855355
Finding
Congenital diaphragmatic hernia
MedGen UID:
500895
Concept ID:
CN000730
Finding
The presence of a hernia of the diaphragm present at birth.
Abnormality of the larynx
MedGen UID:
446418
Concept ID:
CN001456
Finding
An abnormality of the larynx.
Abnormal lung lobation
MedGen UID:
505103
Concept ID:
CN001902
Finding
Defects in the formation of pulmonary lobules.
Tracheal stenosis
MedGen UID:
505350
Concept ID:
CN002513
Finding
Aplasia/Hypoplasia of the lungs
MedGen UID:
446777
Concept ID:
CN005835
Finding
Recurrent otitis media
MedGen UID:
332967
Concept ID:
C1837887
Finding
Abnormality of the spleen
MedGen UID:
425070
Concept ID:
CN001587
Finding
An abnormality of the spleen.
Abnormality of immune system physiology
MedGen UID:
451258
Concept ID:
CN116711
Finding
A functional abnormality of the immune system.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Sign or Symptom
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Abnormality of dental enamel
MedGen UID:
427814
Concept ID:
CN000641
Finding
An abnormality of the dental enamel.
Congenital diaphragmatic hernia
MedGen UID:
500895
Concept ID:
CN000730
Finding
The presence of a hernia of the diaphragm present at birth.
Ulnar deviation of finger
MedGen UID:
68543
Concept ID:
C0231679
Finding
Finger syndactyly
MedGen UID:
376634
Concept ID:
C1849671
Finding
2-3 toe syndactyly
MedGen UID:
400146
Concept ID:
C1862857
Finding
Proximal placement of thumb
MedGen UID:
356033
Concept ID:
C1865572
Finding
Postaxial foot polydactyly
MedGen UID:
384489
Concept ID:
C2112129
Finding
Aplasia/Hypoplasia of the radius
MedGen UID:
411844
Concept ID:
C2749463
Finding
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Postaxial hand polydactyly
MedGen UID:
427858
Concept ID:
CN001092
Finding
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Abnormality of the metacarpal bones
MedGen UID:
427859
Concept ID:
CN001093
Finding
An abnormality of the metacarpal bones.
Split hand
MedGen UID:
504754
Concept ID:
CN001098
Finding
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Hammertoe
MedGen UID:
504946
Concept ID:
CN001605
Finding
Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
Toe syndactyly
MedGen UID:
504947
Concept ID:
CN001609
Finding
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Short toe
MedGen UID:
500911
Concept ID:
CN001658
Finding
A toe that appears disproportionately short compared to the foot.
Metatarsus adductus
MedGen UID:
504970
Concept ID:
CN001665
Finding
The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Overlapping toe
MedGen UID:
504973
Concept ID:
CN001669
Finding
Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.
Talipes
MedGen UID:
504986
Concept ID:
CN001703
Finding
A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
Talipes calcaneovalgus
MedGen UID:
504987
Concept ID:
CN001704
Finding
Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \
Hip dislocation
MedGen UID:
505364
Concept ID:
CN002553
Finding
Displacement of the femur from its normal location in the hip joint.
Micromelia
MedGen UID:
505428
Concept ID:
CN002699
Finding
The presence of abnormally small extremities.
Short thumb
MedGen UID:
429443
Concept ID:
CN008636
Finding
Hypoplasia (congenital reduction in size) of the thumb.
Hip Subluxation
MedGen UID:
830616
Concept ID:
CN218479
Finding
A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGSmith-Lemli-Opitz syndrome
Follow this link to review classifications for Smith-Lemli-Opitz syndrome in Orphanet.

Recent clinical studies

Etiology

Merkens MJ, Sinden NL, Brown CD, Merkens LS, Roullet JB, Nguyen T, Steiner RD
J Pediatr 2014 Oct;165(4):836-41.e1. Epub 2014 Jul 16 doi: 10.1016/j.jpeds.2014.06.010. [Epub ahead of print] PMID: 25039049Free PMC Article
Liu W, Xu L, Lamberson C, Haas D, Korade Z, Porter NA
J Lipid Res 2014 Feb;55(2):329-37. Epub 2013 Nov 20 doi: 10.1194/jlr.D043877. [Epub ahead of print] PMID: 24259532Free PMC Article
Korade Z, Xu L, Harrison FE, Ahsen R, Hart SE, Folkes OM, Mirnics K, Porter NA
Biol Psychiatry 2014 Feb 1;75(3):215-22. Epub 2013 Jul 26 doi: 10.1016/j.biopsych.2013.06.013. [Epub ahead of print] PMID: 23896203Free PMC Article
Tu C, Li J, Jiang X, Sheflin LG, Pfeffer BA, Behringer M, Fliesler SJ, Qu J
Mol Cell Proteomics 2013 Dec;12(12):3583-98. Epub 2013 Aug 26 doi: 10.1074/mcp.M113.027847. [Epub ahead of print] PMID: 23979708Free PMC Article
Hall P, Michels V, Gavrilov D, Matern D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S
Mol Genet Metab 2013 Sep-Oct;110(1-2):176-8. Epub 2013 Apr 10 doi: 10.1016/j.ymgme.2013.04.004. [Epub ahead of print] PMID: 23628460

Diagnosis

Merkens MJ, Sinden NL, Brown CD, Merkens LS, Roullet JB, Nguyen T, Steiner RD
J Pediatr 2014 Oct;165(4):836-41.e1. Epub 2014 Jul 16 doi: 10.1016/j.jpeds.2014.06.010. [Epub ahead of print] PMID: 25039049Free PMC Article
Liu W, Xu L, Lamberson C, Haas D, Korade Z, Porter NA
J Lipid Res 2014 Feb;55(2):329-37. Epub 2013 Nov 20 doi: 10.1194/jlr.D043877. [Epub ahead of print] PMID: 24259532Free PMC Article
Lee RW, Conley SK, Gropman A, Porter FD, Baker EH
Am J Med Genet A 2013 Oct;161A(10):2407-19. Epub 2013 Aug 5 doi: 10.1002/ajmg.a.36096. [Epub ahead of print] PMID: 23918729Free PMC Article
Windsor K, Genaro-Mattos TC, Kim HY, Liu W, Tallman KA, Miyamoto S, Korade Z, Porter NA
J Lipid Res 2013 Oct;54(10):2842-50. Epub 2013 Jul 4 doi: 10.1194/jlr.M041061. [Epub ahead of print] PMID: 23828810Free PMC Article
Hall P, Michels V, Gavrilov D, Matern D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S
Mol Genet Metab 2013 Sep-Oct;110(1-2):176-8. Epub 2013 Apr 10 doi: 10.1016/j.ymgme.2013.04.004. [Epub ahead of print] PMID: 23628460

Therapy

Boctor FN, Wilkerson ML
Ann Clin Lab Sci 2014 Summer;44(3):332-3. PMID: 25117108
Sparks SE, Wassif CA, Goodwin H, Conley SK, Lanham DC, Kratz LE, Hyland K, Gropman A, Tierney E, Porter FD
J Inherit Metab Dis 2014 May;37(3):415-20. Epub 2014 Feb 6 doi: 10.1007/s10545-013-9672-5. [Epub ahead of print] PMID: 24500076Free PMC Article
Korade Z, Xu L, Harrison FE, Ahsen R, Hart SE, Folkes OM, Mirnics K, Porter NA
Biol Psychiatry 2014 Feb 1;75(3):215-22. Epub 2013 Jul 26 doi: 10.1016/j.biopsych.2013.06.013. [Epub ahead of print] PMID: 23896203Free PMC Article
Hall P, Michels V, Gavrilov D, Matern D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S
Mol Genet Metab 2013 Sep-Oct;110(1-2):176-8. Epub 2013 Apr 10 doi: 10.1016/j.ymgme.2013.04.004. [Epub ahead of print] PMID: 23628460
Svoboda MD, Christie JM, Eroglu Y, Freeman KA, Steiner RD
Am J Med Genet C Semin Med Genet 2012 Nov 15;160C(4):285-94. Epub 2012 Oct 5 doi: 10.1002/ajmg.c.31347. [Epub ahead of print] PMID: 23042642Free PMC Article

Prognosis

Merkens MJ, Sinden NL, Brown CD, Merkens LS, Roullet JB, Nguyen T, Steiner RD
J Pediatr 2014 Oct;165(4):836-41.e1. Epub 2014 Jul 16 doi: 10.1016/j.jpeds.2014.06.010. [Epub ahead of print] PMID: 25039049Free PMC Article
De Clemente V, Vitiello G, Imperati F, Romano A, Parente I, Rosa M, Pascarella A, Parenti G, Del Giudice E
Minerva Pediatr 2013 Feb;65(1):61-9. PMID: 23422574
Witsch-Baumgartner M, Sawyer H, Haas D
Eur J Hum Genet 2013 Aug;21(8) Epub 2013 Jan 16 doi: 10.1038/ejhg.2012.255. [Epub ahead of print] PMID: 23321614Free PMC Article
Oláh AV, Szabó GP, Varga J, Balogh L, Csábi G, Csákváry V, Erwa W, Balogh I
Eur J Pediatr 2013 May;172(5):623-30. Epub 2013 Jan 15 doi: 10.1007/s00431-012-1925-z. [Epub ahead of print] PMID: 23319240
Liu W, Xu L, Lamberson CR, Merkens LS, Steiner RD, Elias ER, Haas D, Porter NA
J Lipid Res 2013 Jan;54(1):244-53. Epub 2012 Oct 16 doi: 10.1194/jlr.M031732. [Epub ahead of print] PMID: 23072947Free PMC Article

Clinical prediction guides

Merkens MJ, Sinden NL, Brown CD, Merkens LS, Roullet JB, Nguyen T, Steiner RD
J Pediatr 2014 Oct;165(4):836-41.e1. Epub 2014 Jul 16 doi: 10.1016/j.jpeds.2014.06.010. [Epub ahead of print] PMID: 25039049Free PMC Article
Sparks SE, Wassif CA, Goodwin H, Conley SK, Lanham DC, Kratz LE, Hyland K, Gropman A, Tierney E, Porter FD
J Inherit Metab Dis 2014 May;37(3):415-20. Epub 2014 Feb 6 doi: 10.1007/s10545-013-9672-5. [Epub ahead of print] PMID: 24500076Free PMC Article
Tu C, Li J, Jiang X, Sheflin LG, Pfeffer BA, Behringer M, Fliesler SJ, Qu J
Mol Cell Proteomics 2013 Dec;12(12):3583-98. Epub 2013 Aug 26 doi: 10.1074/mcp.M113.027847. [Epub ahead of print] PMID: 23979708Free PMC Article
Lee RW, Conley SK, Gropman A, Porter FD, Baker EH
Am J Med Genet A 2013 Oct;161A(10):2407-19. Epub 2013 Aug 5 doi: 10.1002/ajmg.a.36096. [Epub ahead of print] PMID: 23918729Free PMC Article
Keller RK, Mitchell DA, Goulah CC, Fliesler SJ
Lipids 2013 Mar;48(3):219-29. Epub 2013 Jan 30 doi: 10.1007/s11745-013-3762-x. [Epub ahead of print] PMID: 23361583Free PMC Article

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