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Cornelia de Lange syndrome
Cornelia de Lange syndrome (CdLS) is a rare disease
This condition is a multisystem disorder
How common is Cornelia de Lange syndrome
- Cornelia de Lange syndrome is most common at birth.
- Males and females are affected equally.
- As per the current medical literature, more than 400 cases been reported, with the evidence including affected individuals within several families (kindreds), also multiple affected siblings have been reported in certain families .
- Estimates from research show that CdLS occurs in one in every 10,000 live births approximately in the United States.
- It has been proven that there is a 1-2 % recurrence rate within affected families.
Features of Cornelia de Lange syndrome
This condition is characterized by the below features
- Intellectual deficits
- Oligodactyly (abnormal feet and hands)
- Facial dysmorphism
- Severe growth retardation usually during second trimester
- Severe amputation
- Constant brachymetacarpia of the first metacarpus
- Kidney and heart malformations
Symptoms of Cornelia de Lange syndrome
Very frequent Symptoms
- Abnormally low-pitched voice
- Anteverted nares
- Atresia of the external auditory canal
- Brachycephaly
- Curly eyelashes
- Delayed eruption of teeth
- Delayed skeletal maturation
- Depressed nasal bridge
- Downturned corners of mouth
- Gastroesophageal reflux
- Generalized hirsutism
- High palate
- Highly arched eyebrow
- Hypertonia
- Intellectual disability
- Intellectual disability, severe
- Long eyelashes
- Long philtrum
- Low anterior hairline
- Low posterior hairline
- Microcephaly
- Micrognathia
- Micromelia
- Proximal placement of thumb
- Short 1st metacarpal
- Short foot
- Short neck
- Short nose
- Short stature
- Small hand
- Synophrys
- Thick eyebrow
- Thin vermilion border
- Toe syndactyly
- Widely spaced teeth
Frequent Symptoms
- Anxiety
- Attention deficit hyperactivity disorder
- Bilateral single transverse palmar creases
- Blepharitis
- Clinodactyly of the 5th finger
- Conductive hearing impairment
- Cryptorchidism
- Cutis marmorata
- Elbow dislocation
- Failure to thrive
- Feeding difficulties in infancy
- Hypoplasia of penis
- Hypoplastic labia majora
- Hypoplastic nipples
- Hypospadias
- Intrauterine growth retardation
- Joint stiffness
- Low-set, posteriorly rotated ears
- Microcornea
- Multicystic kidney dysplasia
- Myopia
- Neurological speech impairment
- Obsessive-compulsive behavior
- Phthisis bulbi
- Premature birth
- Ptosis
- Radioulnar synostosis
- Sensorineural hearing impairment
- Severe postnatal growth retardation
- Sleep disturbance
- Vesicoureteral reflux
Occasional Symptoms
- Abnormality of the ulna
- Abnormality of the uterus
- Aplasia/Hypoplasia of the cerebellum
- Atrial septal defect
- Autism
- Cataract
- Cerebral cortical atrophy
- Choanal atresia
- Cleft palate
- Congenital diaphragmatic hernia
- Delayed puberty
- Glaucoma
- Hip dislocation
- Hip dysplasia
- Increased nuchal translucency
- Intestinal malrotation
- Macrotia
- Malformation of the heart and great vessels
- Muscular hypotonia
- Nystagmus
- Oligodactyly
- Pectus excavatum
- Peripheral neuropathy
- Prenatal movement abnormality
- Primary amenorrhea
- Pyloric stenosis
- Renal insufficiency
- Seizures
- Strabismus
- Talipes
- Truncal obesity
- Ventricular septal defect
- Ventriculomegaly
- Volvulus
