Pediatrics

Growing Up with CdLS: Adulthood and Urgent Care

At a Glance

Adults with Cornelia de Lange syndrome need an individualized transition plan, a lead care coordinator, and an emergency medical summary. Bright-green vomit, a hard swollen abdomen, severe breathing difficulty, blue lips, or unresponsiveness require urgent emergency help.

Cornelia de Lange Syndrome (CdLS) is a lifelong journey. While much of the initial focus is on early development, it is important to know that individuals with CdLS can live well into adulthood ^[1]. Survival data spans a wide range depending on individual health complications, but proactive, individualized health monitoring gives every person the best chance at a long, comfortable life. As individuals grow, their medical needs shift, requiring a carefully planned transition from pediatric specialists to an adult-focused care team.

Transitioning to Adult Care

Transition is a process, not a one-time event. International guidelines recommend starting this transition in early adolescence ^[2]. A successful transition involves:

A Lead Coordinator: Identifying one doctor who will oversee the specialists and update the care plan ^[3].
The Emergency Passport: Creating a medical summary that includes the genetic diagnosis, baseline behaviors, current medications, airway anatomy details, and specific anesthesia concerns ^[2].
Supported Decision-Making: Exploring legal options for capacity and supported decision-making according to your local jurisdiction to ensure the adult’s voice and needs are respected.
Updated Screening: Adults need individualized monitoring for issues that can persist or emerge with age, such as Gastroesophageal Reflux Disease (GERD), constipation, hearing/vision loss, obesity, and hypothyroidism ^[4]^[5]. Not every adult requires identical testing; screening intervals should be tailored.

Recognizing Medical Emergencies (Red Flags)

Because people with CdLS may express or communicate pain atypically, they may not “act sick” in expected ways. Caregivers and self-advocates must watch for specific red flags that warrant immediate emergency assessment or a call to local emergency services.

1. Gastrointestinal Emergencies

Individuals with CdLS are at risk for severe GI complications like volvulus (twisting of the bowel) or bowel obstruction, which require urgent assessment and potential surgical management ^[6].

Action Required - Seek Urgent/Emergency Care if you see:
- Bilious Vomiting: Vomit that is bright green ^[6].
- Abdominal Distension: A stomach that is suddenly very hard, bloated, or swollen.
- Severe Pain: Intense, unusual, or unexplainable crying, doubling over, or severe discomfort.
- Inability to pass stool or gas, or bloody stool.

2. Respiratory Emergencies (Aspiration Pneumonia)

Due to swallowing difficulties and reflux, there is a high risk of aspiration pneumonia (food or liquid entering the lungs) ^[7]^[8].

Action Required - Call Emergency Services (911) if you see:
- Severe Breathing Difficulty: Rapid breathing, gasping, or using chest muscles to breathe (retractions) ^[9].
- Cyanosis: A blue or purple tint to the lips, tongue, or central skin.
- Unresponsiveness or a rapidly worsening condition.

The Risk of “Diagnostic Overshadowing”

Diagnostic overshadowing happens when doctors or caregivers mistakenly attribute physical symptoms entirely to a person’s underlying disability or behavioral profile ^[10].

In CdLS, an abrupt or severe change in behavior (such as new aggression, withdrawal, or self-injury) carries a high risk of being a manifestation of hidden pain. While not every change is pain-related, caregivers should advocate for a prompt, thorough medical assessment—checking for issues like severe reflux, dental abscesses, or ear infections—combined with an evaluation of communication, environment, sleep, and mental health ^[4]^[10]. This concurrent evaluation ensures that physical emergencies are not missed while still providing appropriate access to urgent psychiatric or behavioral care when needed.

Common questions in this guide

When should a person with CdLS start planning the move to adult healthcare?

Transition planning should begin in early adolescence rather than waiting until the 18th birthday. It should identify a lead coordinator, document the person’s medical and communication needs, and arrange a gradual handoff from pediatric to adult clinicians.

What belongs in an emergency medical summary for someone with CdLS?

Include the genetic diagnosis, baseline behavior and communication style, current medications, airway details, and known anesthesia concerns. The summary can also record usual oxygen levels and other information that helps emergency clinicians recognize what is normal for that person.

Which stomach symptoms in CdLS need emergency evaluation?

Bright-green vomit, a suddenly hard or swollen abdomen, severe unusual pain, inability to pass stool or gas, or bloody stool can signal a serious bowel problem such as twisting or blockage. Seek urgent or emergency care rather than waiting for these symptoms to resolve.

What breathing changes should prompt a call to emergency services?

Call local emergency services for severe breathing difficulty, rapid breathing, gasping, chest retractions, blue or purple lips or tongue, or unresponsiveness. Swallowing problems and reflux can allow food or liquid into the lungs and raise the risk of aspiration pneumonia.

Can a sudden behavior change be a sign of pain in CdLS?

Yes, although not every behavior change is caused by pain. New aggression, withdrawal, or self-injury should prompt medical assessment for causes such as severe reflux, a dental abscess, or an ear infection while clinicians also consider sleep, environment, communication, and mental health.

How often should adults with CdLS be screened for other health problems?

There is no single schedule for every adult. Clinicians should tailor monitoring to the person’s health history and needs, including issues that may persist or develop with age such as reflux, constipation, hearing or vision loss, obesity, and an underactive thyroid.

Get notified when new evidence is published on Cornelia de Lange syndrome.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.

Key takeaways

Transition from pediatric to adult care should begin in early adolescence and include a lead coordinator, emergency medical summary, supported decision-making, and individualized screening.
Adult monitoring should be tailored to the person and may include reflux, constipation, hearing or vision loss, obesity, and an underactive thyroid.
Bright-green or bilious vomiting, a hard swollen abdomen, severe pain, inability to pass stool or gas, or bloody stool require urgent medical assessment.
Severe breathing difficulty, gasping, chest retractions, blue or purple lips or tongue, or unresponsiveness require calling emergency services because aspiration can cause pneumonia.
A sudden change in behavior may signal hidden pain, so physical causes should be evaluated alongside communication, environmental, sleep, mental-health, and behavioral factors.

References (10)

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Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Kline AD, Moss JF, Selicorni A, et al.
Nature reviews. Genetics 2018; (19(10)):649-666 doi:10.1038/s41576-018-0031-0.
PMID: 29995837
3
Challenges of caring for a patient with a rare disease--as demonstrated by Cornelia de Lange Syndrome.
Wierzba J, Mazurkiewicz-Bełdzińska M, Jabłońska-Brudło J, et al.
Developmental period medicine 2015; (19(4)):511-5.
PMID: 26982763
4
Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients.
Mariani M, Decimi V, Bettini LR, et al.
American journal of medical genetics. Part C, Seminars in medical genetics 2016; (172(2)):206-13 doi:10.1002/ajmg.c.31502.
PMID: 27164219
5
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome
Ascaso Á, Latorre-Pellicer A, Puisac B, et al.
Journal of clinical research in pediatric endocrinology 2024; (16(2)):211-217 doi:10.4274/jcrpe.galenos.2022.2022-4-14.
PMID: 36482071
6
A Novel Frameshift Mutation (c.5387_5388insTT) in NIPBL in Cornelia de Lange Syndrome with Severe Phenotype.
Kang MJ, Ahn SM, Hwang IT
Annals of clinical and laboratory science 2018; (48(1)):106-109.
PMID: 29531005
7
[Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case].
Mora-Bautista VM, Mendoza-Rojas V, Contreras-García GA
Archivos argentinos de pediatria 2017; (115(3)):e170-e174 doi:10.5546/aap.2017.e170.
PMID: 28504504
8
Cornelia de Lange syndrome: What every otolaryngologist should know.
Eliason MJ, Melzer JM, Gallagher TQ
Ear, nose, & throat journal 2017; (96(8)):E6-E9 doi:10.1177/014556131709600802.
PMID: 28846791
9
Cornelia de Lange Syndrome: A Case Series from a Resource-Limited Country.
Sharawat IK, Dawman L
Journal of pediatric neurosciences 2018; (13(3)):334-336 doi:10.4103/JPN.JPN_25_18.
PMID: 30271468
10
Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome.
Trujillano L, Ayerza-Casas A, Puisac B, et al.
Cureus 2024; (16(4)):e57378 doi:10.7759/cureus.57378.
PMID: 38694681

This page provides general information about adult care and emergency warning signs in CdLS and is not medical advice. Contact the healthcare team for an individualized plan, and use local emergency services for severe breathing difficulty, blue or purple lips, unresponsiveness, or other suspected emergencies.