de Lange Syndrome

Syndrome: De Lange Syndrome (Cornelia de Lange Syndrome)
Etiology: Genetic disorder that can lead to serious developmental anomalies, affecting both physical and intellectual development of a child. Most due to spontaneous mutations. No specific gene associated.
Diagnosis: solely a clinical diagnosis right now. There are no biochemical or chromosomal markers for DLS yet.
Systemic/Medical Conditions:
• Low birth weight (usually under 5 pounds / 2.5 kilograms)
• Delayed growth and small stature
• Developmental delay
• Limb differences (missing limbs or portions of limbs)
• Small head size (microcephaly)
• Thick eyebrows, which typically meet at midline (synophrys)
• Long eyelashes
• Short upturned nose and thin downturned lips
• Long philtrum
• Excessive body hair
• Small hands and feet
• Small widely spaced teeth
• Low-set ears
• Hearing impairments
• Vision abnormalities (e.g., ptosis, nystagmus, high myopia, hypertropia)
• Partial joining of the second and third toes
• Incurved 5th fingers
• Gastroesophageal reflux
• Seizures
• Heart defects
• Cleft palate
• Feeding problems
Children with this syndrome are often found to have long eyelashes, bushy eyebrows and synophrys- Unibrow!
Children with CdLS often suffer from gastrointestinal tract difficulties, particularly gastroesophageal reflux. Vomiting, intermittent poor appetite, constipation, diarrhea or gaseous distention are known to be a regularity in cases where the GE tract problems are acute. However, symptoms may range from mild to severe.
Oral Manifestations: Some dental abnormalities reported include delayed eruption, spacing and macro- or microdontia.
Recent Info: 2009 study out of Turkey found possible correlation between CdLS and Hutchinson’s teeth.