What is Cri-Du-Chat Syndrome?
Cri-du-Chat syndrome is a rare genetic condition usually diagnosed at birth. The characteristic high-pitched cat-like cry is a major symptom of the syndrome and often enough to trigger the diagnostic process in a newborn.
Also known as 5p- (5p minus) syndrome, this rare disease is a chromosomal condition characterized by intellectual disability, developmental delay, and unique facial features.
Syndrome Synonyms:
Cat Cry Syndrome; Chromosome 5p Deletion Syndrome
What gene change causes Cri-Du-Chat Syndrome?
The syndrome is caused when chromosome 5 has a missing piece, hence the syndrome is often referred to as 5p- syndrome or even cat cry syndrome. The deletion is random and not inherited.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
What are the main symptoms of Cri-Du-Chat Syndrome?
Apart from the characteristic cat-like, high-pitched cry, facial and physical characteristics include widely spaced eyes and a small head, low muscle tone, and a low birth weight.
Symptoms vary considerably between individuals, possibly related to the size of the missing piece from the chromosome.
Developmental delay and intellectual disability are the main symptoms but also may vary in the extent of their severity.
Many individuals with the syndrome exhibit language delay and just 50% of individuals will develop enough language ability to communicate effectively verbally.
Possible clinical traits/features:
Anxiety, Abnormal palate morphology, Abnormality of the voice, Abnormality of the pinna, Oral cleft, Autism, Bifid uvula, Wide nasal bridge, Cataract, Cat cry, Abnormality of the kidney, Anterior open-bite malocclusion, Aggressive behavior, Sporadic, Short palm, Short metatarsal, Short metacarpal, Scoliosis, Recurrent fractures, Strabismus, Thick lower lip vermilion, Microcephaly, Round face, Short philtrum, Premature graying of hair, Recurrent infections in infancy and early childhood, Short attention span, Self-mutilation, Single transverse palmar crease, Syndactyly, Pes planus, Preauricular skin tag, Overfriendliness, Stereotypy, Short neck, Prominent supraorbital ridges, Stenosis of the external auditory canal, Oppositional defiant disorder, Optic atrophy, Difficulty walking, Diastasis recti, Feeding difficulties in infancy, Finger syndactyly, Facial grimacing, Facial asymmetry, Echolalia, Downslanted palpebral fissures, Downturned corners of mouth, Small for gestational age, Malformation of the heart.
How is it diagnosed?
To find out if someone has a diagnosis of Cri-Du-chat syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
