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
Key features (mnemonic:
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
she's got heart!)
- synophrys (unibrow)
- downturning upper lip
Common Early Problems
- feeding difficulty
- 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.
- bushy eyebrows/synophrys; long curly eyelashes; hairy forehead
- depressed nasal bridge; anteverted/flared nares
thin upper lip; downturned angles of mouth; high arched palate; late
eruption/wide spacing of teeth
- micrognathia; spurs in ant angle of mandible
Cutis Marmorata; perioral pale "cyanosis"; hypoplastic
- 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
- hypoplastic genitals; undescend testes; hypospadias
- Myopia (60%), ptosis (45%), and nystagmus (37%) occur.
- GI abnL (92%) GER, duplication, malrotation/volvulus, pyloric stenosis
- growth deficiency (prenatal onset); retarded osseous maturation
- low-pitched/growling/wk cry in infancy; initial hypertonicity
- mental retardation (ave IQ 53); sluggish physical activity;
- marked growth retard/FTT
- feeding difficulties (GER,
projectile vomiting, chewing/swallowing probs)
- mental retardation
- hearing loss assoc c speech delay
- broad based gait
- 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
- 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.
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
- Fine motor activities, when not limited by physical impairments, should be
stressed in education, especially those related to activities of daily living.
- Gastroenterologist and nutritionist
- Nephrologist (if recurrent urinary tract infections are present)
CHLA board review course 2005
Baraitser and Winter, 1996. Color Atlas of Congenital Malformation Syndromes