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PubMed This is a summary of 17 peer-reviewed journal articles Updated
Genetics

Symptoms and Physical Features of Monosomy 5p

At a Glance

Monosomy 5p (Cri du Chat syndrome) is characterized by a distinctive high-pitched cry, small head size, and unique facial features. Infants often face significant feeding and swallowing challenges due to low muscle tone, and typically experience global developmental and speech delays.

Understanding the symptoms and physical features of Monosomy 5p (Cri du Chat syndrome) can help you better anticipate your child’s needs and partner more effectively with their care team. While every child is unique, there are characteristic patterns in how the syndrome affects the body and early development. For a full list of baseline screenings, see Medical Comorbidities and Health Monitoring.

The Signature “Cat-Like” Cry

The most distinctive early sign is a high-pitched, monochromatic cry that sounds like a kitten [1][2]. This is not just a behavioral trait; it is caused by specific anatomical differences in the larynx (voice box) and epiglottis (the flap of tissue that covers the windpipe during swallowing) [3][4].

  • Anatomical Causes: The larynx may be unusually narrow, and the epiglottis may be small, floppy, or “retroflexed” (tilted backward) [5][6].
  • Evolution: As the child grows and these structures mature, the cry typically loses its characteristic high pitch and becomes less distinctive [2][7].

Common Physical Features

Geneticists look for a specific group of facial and physical features, known as dysmorphic features, to help diagnose the syndrome.

  • Microcephaly: An unusually small head size is a core clinical feature of the condition [8][1].
  • Facial Structure: Infants often have a round (“moon-like”) face, though the face typically becomes longer as the child ages [9][10]. Other common features include epicanthal folds (skin folds of the upper eyelid covering the inner corner of the eye) and a wide nasal bridge [11].
  • Oral and Jaw Features: A short philtrum (the groove between the nose and upper lip) and mandibular retrognathism (a receding lower jaw) are frequently observed [9][11]. This jaw structure can contribute to dental issues such as an open bite later in life, making regular dental care and specialized visits a vital part of their health routine [9].

Feeding and Swallowing Challenges

Due to the structural differences in the larynx and low muscle tone (hypotonia), many infants struggle with feeding from birth.

  • Aspiration Risk: There is a high risk of aspiration, which occurs when food or liquid enters the lungs instead of the stomach [5]. This can lead to aspiration pneumonia, a serious lung infection.
  • Feeding Strategies: Strategies like using specialized bottles, paced feeding techniques, or thickening liquids are often recommended by specialists to ensure safe swallowing [12].
  • Growth Concerns: Difficulties with sucking and swallowing can lead to failure to thrive or protein-energy malnutrition, where a child does not get enough calories or nutrients to grow properly [13][14].
  • Signs to Watch: Parents should watch for coughing, gagging, or “rattly” breathing during or after feeds, which may indicate swallowing difficulties.

Early Developmental Milestones

Children with Monosomy 5p experience global developmental delay, meaning they reach physical and mental milestones later than their peers.

  • Psychomotor Delays: Early signs include hypotonia (floppiness), which affects the ability to hold up the head, sit, or crawl [15][1].
  • Language Acquisition: Speech is often more significantly delayed than other skills. While children may understand more than they can say (receptive language), approximately 50% may not develop expressive speech (using spoken words to communicate) and may rely on gestures or sign language [16][17].
  • Growth Patterns: Many infants are born with a low birth weight and continue to follow a slower growth trajectory than average [13]. Specialized growth charts are often used to track their progress accurately.

Common questions in this guide

Why does my baby with Monosomy 5p have a high-pitched cry?
The signature cat-like cry is caused by specific anatomical differences in the larynx (voice box) and epiglottis, which may be narrow, small, or floppy. As your child grows and these structures mature, the cry typically becomes less distinctive.
What are the common facial features of Monosomy 5p syndrome?
Infants often have a small head size (microcephaly), a round face, skin folds over the inner eye corners (epicanthal folds), and a wide nasal bridge. A receding lower jaw is also common and can lead to dental issues later in life.
Why is feeding difficult for babies with Cri du Chat syndrome?
Low muscle tone and structural differences in the throat can make sucking and swallowing difficult. This creates a high risk for aspiration, where food or liquid enters the lungs, so specialized feeding strategies are often necessary.
Will my child with Monosomy 5p be able to talk?
Speech is often significantly delayed in children with Monosomy 5p. While they typically understand more than they can say, about half of these children may rely on gestures or sign language instead of spoken words to communicate.
What developmental delays should I expect with Monosomy 5p?
Children usually experience global developmental delays, including slower physical growth and psychomotor delays due to low muscle tone (hypotonia). This affects early milestones like holding the head up, sitting, and crawling.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Has a speech-language pathologist or feeding specialist performed a formal swallow study to rule out silent aspiration?
  2. 2.Is my child's current head circumference (microcephaly) within the expected range for children with Cri du Chat syndrome?
  3. 3.Can you explain how the specific location of the deletion (like 5p15.3) correlates with the laryngeal features we are seeing?
  4. 4.What are the specific signs of aspiration or respiratory distress I should look for at home during feedings?
  5. 5.Based on my child's current muscle tone, when should we begin physical therapy to support their psychomotor milestones?

Questions For You

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References

References (17)
  1. 1

    Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.

    Nevado J, Bel-Fenellós C, Sandoval-Talamantes AK, et al.

    Frontiers in genetics 2021; (12()):645595 doi:10.3389/fgene.2021.645595.

    PMID: 34394178
  2. 2

    [Neonatal cri-du-chat syndrome revelead by facial dysmorphism and weak suction: a case report].

    Bouh AH, Nejjari M, Hassan AO, et al.

    The Pan African medical journal 2023; (46()):109 doi:10.11604/pamj.2023.46.109.42239.

    PMID: 38435407
  3. 3

    Perioperative Care of a Child With Cri Du Chat Syndrome.

    Davis C, Grischkan J, Tobias JD

    Journal of medical cases 2020; (11(9)):279-282 doi:10.14740/jmc3494.

    PMID: 34434412
  4. 4

    [Brain MRI Findings of the Cri-Du-Chat Syndrome: A Case Report and Summary].

    Choi JS, Yoo EA, Choi JO, Kim SJ

    Taehan Yongsang Uihakhoe chi 2020; (81(4)):979-984 doi:10.3348/jksr.2020.81.4.979.

    PMID: 36238176
  5. 5

    Laryngeal Findings in a 20-Month-Old With Cri du Chat Syndrome.

    Braunstein D, Jones H, Heffernan C

    The Laryngoscope 2025; (135(5)):1774-1776 doi:10.1002/lary.31941.

    PMID: 39665168
  6. 6

    Difficult intubation caused by an immature upper airway in a patient with cri-du-chat syndrome: a case report.

    So E, Kim S

    Journal of dental anesthesia and pain medicine 2020; (20(1)):49-53 doi:10.17245/jdapm.2020.20.1.49.

    PMID: 32158960
  7. 7

    Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

    Zhang B, Willing M, Grange DK, et al.

    American journal of medical genetics. Part A 2016; (170(3)):583-93 doi:10.1002/ajmg.a.37445.

    PMID: 26601658
  8. 8

    Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report.

    Kaymak D, Alpay V, Erenel H, et al.

    Fetal and pediatric pathology 2020; (39(5)):446-451 doi:10.1080/15513815.2019.1669230.

    PMID: 31553256
  9. 9

    A systematic review of the oral and craniofacial manifestations of cri du chat syndrome.

    Corcuera-Flores JR, Casttellanos-Cosano L, Torres-Lagares D, et al.

    Clinical anatomy (New York, N.Y.) 2016; (29(5)):555-60 doi:10.1002/ca.22654.

    PMID: 26457586
  10. 10

    Advancing Genotype-Phenotype Analysis through 3D Facial Morphometry: Insights from Cri-du-Chat Syndrome.

    Vanneste M, Matthews H, Sleyp Y, et al.

    medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.06.01.25327945.

    PMID: 40492093
  11. 11

    Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry.

    Chehimi SN, Zanardo ÉA, Ceroni JRM, et al.

    Molecular genetics & genomic medicine 2020; (8(2)):e957 doi:10.1002/mgg3.957.

    PMID: 31568707
  12. 12

    Dysphagia in Older Adults.

    Thiyagalingam S, Kulinski AE, Thorsteinsdottir B, et al.

    Mayo Clinic proceedings 2021; (96(2)):488-497 doi:10.1016/j.mayocp.2020.08.001.

    PMID: 33549267
  13. 13

    Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication.

    Olivella A, Manotas H, Payán-Gómez C, Piñeros JG

    BMJ case reports 2020; (13(6)) doi:10.1136/bcr-2019-233766.

    PMID: 32487530
  14. 14

    Pontine hypoplasia in cri-du-chat syndrome: alterations in diffusion tensor imaging.

    Corrêa DG, Ventura N, Gasparetto EL

    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2017; (33(8)):1241-1242 doi:10.1007/s00381-017-3508-9.

    PMID: 28676976
  15. 15

    Cri-Du-Chat Syndrome - A Rare Case Report.

    Dhanasekaran B, Srinivasan R, Kanagamuthu P, et al.

    Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India 2023; (75(4)):3993-3998 doi:10.1007/s12070-023-04039-y.

    PMID: 37974816
  16. 16

    Cri du Chat syndrome: Characteristics of 73 Brazilian patients.

    Honjo RS, Mello CB, Pimenta LSE, et al.

    Journal of intellectual disability research : JIDR 2018; (62(6)):467-473 doi:10.1111/jir.12476.

    PMID: 29460462
  17. 17

    Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships.

    Bel-Fenellós C, Biencinto-López C, Sáenz-Rico B, et al.

    Genes 2023; (14(8)) doi:10.3390/genes14081628.

    PMID: 37628679

This page provides educational information about the symptoms and physical features of Monosomy 5p. It is not a substitute for professional medical evaluation, so always consult your child's pediatrician or care team for personalized guidance.

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