Cornelia de Lange Syndrome
Cornelia de Lange Syndrome (also known as CdLS) is a rare developmental disorder which has a tremendous impact on the development of hearing apparatus in a child. The child is typically mentally retarded with external auditory canal atresia, hypoplastic tympanomastoid cavity, hypoplastic ossicles, cochlea and vestibule.
The gene responsible for this disorder lie in the chromosome 5.Cornelia de lange syndrome is a developmental disorder caused by abnormal gene in chromosome 5.
These children are typically mentally retarded, with atresia of external auditory canal.
The tympanomastoid cavity is hypoplastic, ossicles are also hypoplastic.
The vestibule and cochlea are also hypoplastic.
These children are typically low birth weight.
The classic features are:
* 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.
* 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.