Cornelia de Lange

Prenatal growth retardation; characterized by microcephaly, hirsutism, anteverted nares, down-turned mouth, MR, and congenital heart defects. Major hazards for survival = bowel obstruction, apnea, cardiac defects

Etiology

• unknown
• most cases sporadic
• occasionally may be transmitted in an autosomal dominant pattern
• some association chrom 3

Key features (mnemonic: frowny unibrow baby who can't reach eyebrows with hands and is flaring nostrils with so much effort that she's got her bowels in a knot (at risk for SBO); she's got heart!)

• synophrys (unibrow)
• downturning upper lip
• micromelia

Common Early Problems

• feeding difficulty
• irritability
• deep, hoarse cry
• increased tone in limbs

Head and face. Facial features are perhaps the most diagnostic of all the physical signs and combine to create a unique gestalt for the clinician. This combination of findings may be absent in postpubertal males.

• microbrachycephaly
• bushy eyebrows/synophrys; long curly eyelashes; hairy forehead
• depressed nasal bridge; anteverted/flared nares
• long philtrum; thin upper lip; downturned angles of mouth; high arched palate; late eruption/wide spacing of teeth
• micrognathia; spurs in ant angle of mandible

Skin

• hirsutism; Cutis Marmorata; perioral pale "cyanosis"; hypoplastic nipples/umbilicus

Limbs

• micromelia(short limbs); phocomelia (stubby hands/feet attached close to body) & oligodactyly; clinodactyly of 5th fingers; simian crease; prox implantation of thumbs; flexion contracture of elbows; syndactyly of 2nd & 3rd toes

GU

• hypoplastic genitals; undescend testes; hypospadias

Ocular abnormalities:

• Myopia (60%), ptosis (45%), and nystagmus (37%) occur.

GI abnormalities

• GI abnL (92%) GER, duplication, malrotation/volvulus, pyloric stenosis

Growth/Behavior

• growth deficiency (prenatal onset); retarded osseous maturation
• low-pitched/growling/wk cry in infancy;  initial hypertonicity
• mental retardation (ave IQ 53); sluggish physical activity;

Course

• marked growth retard/FTT
• feeding difficulties (GER, projectile vomiting, chewing/swallowing probs)
• mental retardation
• hearing loss assoc c speech delay
• broad based gait
• Autistic-like
  • Children with CDLS prefer a structured routine and have difficulty with changes in their daily routine. Activities that stimulate the vestibular system are pleasurable to CDLS patients, including swinging, bouncing, swimming, and horseback riding.
  • The main characteristics in severely affected children are diminished ability to relate socially, repetitive and stereotypic behavior, infrequent facial expression of emotion, and severe language delays.
• major hazards for survival = bowel obstruction, apnea, cardiac defects

Studies:

• Complete blood count (Thrombocytopenia has been reported.)
• Echocardiography if congenital heart disease is suspected.
• Plain films: various skeletal abnormalities of chest, hands/fingers, long bones, pelvis
• bone age: delayed
• Scinti/UGI: hiatal hernia, Aspiration pneumonia (50%), Gastroesophageal reflux (58%), Intestinal obstruction (17%)
• High-resolution chromosomal studies to evaluate for 3q abnormalities
• Hearing evaluation is recommended.
• A spectrum of endocrinopathies may be observed in addition to growth hormone deficiency, including gonadotropin and prolactin secretion problems and panhypopituitarism.

Medical Care:

Early intervention for feeding problems, hearing impairment, congenital heart disease, and urinary system abnormalities

• Early intervention for psychomotor delay
• Computer programs that emphasize visual memory are more beneficial than standard methods of verbal instruction.
• Perceptual organizational tasks should be emphasized.
• Tactile stimulation during indirection helps the children remember and perform maximally.
• Fine motor activities, when not limited by physical impairments, should be stressed in education, especially those related to activities of daily living.

Consultations:

• Geneticist
• Cardiologist
• Gastroenterologist and nutritionist
• Nephrologist (if recurrent urinary tract infections are present)
• Ophthalmologist
  
   

from Smiths
CHLA board review course 2005
Baraitser and Winter, 1996. Color Atlas of Congenital Malformation Syndromes