Paula and Bobby
Parents of Lillie
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.
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 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 and
How does someone get tested for Cri-Du-Chat Syndrome?
The initial testing for Cri-Du-Chat syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
Medical information on Cri-Du-Chat Syndrome
Cri du chat syndrome is a rare syndrome caused by monosomy 5p and characterized by a high-pitched monochromatic cry (cri du chat) in infancy, multiple congenital anomalies, microcephaly, dysmorphic features and intellectual disability.
This syndrome was first described by Lejeune et al. in 1963. The incidence ranges from 1:15,000 to 1:50,000 live-born infants.
Cerruti Mainard (2006) published a review on this syndrome. The most typical dysmorphic features are broad nasal bridge, epicanthal folds and micrognathia. Intellectual disability is usually severe. Malformations can occur and include cardiac, renal and central nervous system malformations, preauricular tags, syndactyly, cryptorchidism and hypospadias.
Espirito-Santo and colleagues (2016) applied chromosomal microarray to evaluate six patients with cytogenetically detected deletions of 5p. The age of diagnosis varied from three months to 12 years. The clinical features included microcephaly, underweight and short stature. The typical ‘cat cry’ at birth was present in all patients. Dysmorphic features included broad nasal bridge, hypertelorism, epicanthal folds, strabismus, lateral downward-slanting palpebral fissures, downturned corners of the mouth, slightly open mouth, full lower lip, high arched palate, malocclusion, minor ear abnormalities and facial asymmetry. Round face in childhood changed to long and narrow facial shape over time. Abnormalities of hands and feet include polydactyly, clinodactyly, and flat feet. Hypotonia was frequently observed in childhood and sometimes changed to hypertonicity. Cognitive and psychological features included friendly personality, hyperactivity/impulsiveness, aggressiveness/nervousness, and learning difficulties.
* This information is courtesy of the L M D.
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