Medical Genetics

Building Your Child's Care Team & Preparing for Visits

At a Glance

Children with 18p deletion syndrome need a coordinated medical team, including a geneticist, endocrinologist, neurologist, and therapists. Parents play a key role by organizing a care binder with genetic reports and ensuring medical information flows between all specialists.

Because 18p deletion syndrome (also called Monosomy 18p) affects multiple parts of the body, your child will need a “medical home”—a group of specialists who work together to support their health and development. As a parent, you will often act as the “project manager” for this team, ensuring that information flows between different doctors ^[1]^[2].

Your Child’s Specialist Roster

While every child’s needs are different, the following specialists are typically essential for a child with 18p-:

Medical Geneticist: The lead for understanding the diagnosis. They provide the roadmap for the syndrome and help you understand the specific breakpoints of your child’s deletion ^[3].
Pediatric Endocrinologist: A high-priority specialist. They monitor for growth hormone deficiency and manage growth hormone (GH) therapy ^[4].
Pediatric Neurologist: Essential for monitoring brain development, ordering initial MRIs, and watching for movement disorders or later-in-life risks ^[2]^[5].
Developmental Pediatrician: Focuses on the “big picture” of milestones, behavior, and social development, such as screening for autistic traits ^[6]^[7].
Therapy Team (Speech, PT, OT): These professionals provide the hands-on daily support needed to address speech delays, feeding issues, and low muscle tone ^[1].
Immunologist / Primary Care: To monitor for IgA deficiency and coordinate autoimmune screenings ^[8].

The Appointment Toolbox

Rare disease experts often rely on specific data to make the best decisions. Before your first visit with any specialist, prepare a “Care Binder” with the following artifacts:

The Genetic Report: A copy of the Chromosomal Microarray (CMA) or cytogenetic report. This is the most important document you own; it tells doctors exactly which genes are missing ^[3].
Growth Charts: Records of your child’s height and weight over time. These are crucial for the endocrinologist to determine if growth hormone therapy is needed ^[4].
Brain Imaging: If your child has had an MRI, bring the actual disc of images or the official radiologist’s report ^[9].
Therapy Evaluations: Recent “Individualized Family Service Plan” (IFSP) or “Individualized Education Program” (IEP) documents that show your child’s current developmental levels.

Coordination as Empowerment

It is common for doctors to be unfamiliar with 18p- because it is so rare ^[3]. Do not be discouraged if you find yourself “teaching the teacher.” You are the expert on your child.

Effective coordination means ensuring that the neurologist knows what the endocrinologist is doing. When you leave an appointment, always ask for a “clinical summary” and ask the doctor to send their notes to your primary pediatrician. This keeps your child’s “medical home” updated and ensures that care is proactive, especially during the critical first years of life ^[1].

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Common questions in this guide

Which specialists are needed for a child with 18p deletion syndrome?

A child with 18p deletion typically needs a medical geneticist, pediatric endocrinologist, pediatric neurologist, and developmental pediatrician. A therapy team including speech, physical, and occupational therapists is also essential to support their daily development.

What should I bring to my child's first specialist appointment?

You should bring a care binder that includes your child's exact genetic report, such as the Chromosomal Microarray. It is also important to include growth charts, brain imaging discs or reports, and recent therapy evaluations.

Why does a child with Monosomy 18p need an endocrinologist?

A pediatric endocrinologist is a high-priority specialist because children with this syndrome are at risk for growth hormone deficiency. The endocrinologist will monitor their growth and manage growth hormone therapy if it is needed.

How can I effectively coordinate care between my child's different doctors?

You can act as the project manager for your child's medical home by asking for clinical summaries after each specialist visit. Always request that doctors send their detailed notes back to your primary pediatrician so everyone remains on the same page.

Curated prompts to bring to your next appointment.

1.Are you willing to collaborate with rare-disease research organizations to ensure we are following the most recent guidance for 18p deletion?
2.How do you prefer to communicate with the other specialists on my child's team to coordinate our care?
3.What is your experience in managing growth hormone therapy or developmental delays in children with rare chromosomal syndromes?

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References (9)

1
Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion.
Bellfield EJ, Chan J, Durrin S, et al.
Case reports in endocrinology 2016; (2016()):2853178 doi:10.1155/2016/2853178.
PMID: 27843654
2
Spectrum of Movement Disorders in 18p Deletion Syndrome.
Crosiers D, Blaumeiser B, Van Goethem G
Movement disorders clinical practice 2019; (6(1)):70-73 doi:10.1002/mdc3.12707.
PMID: 30746419
3
Prenatal diagnosis of de novo monosomy 18p deletion syndrome by chromosome microarray analysis: Three case reports.
Qi H, Zhu J, Zhang S, et al.
Medicine 2019; (98(14)):e15027 doi:10.1097/MD.0000000000015027.
PMID: 30946338
4
A case of de novo 18p deletion syndrome with panhypopituitarism.
Yang A, Kim J, Cho SY, et al.
Annals of pediatric endocrinology & metabolism 2019; (24(1)):60-63 doi:10.6065/apem.2019.24.1.60.
PMID: 30943682
5
The Spectrum of Movement Disorders in 18-p Deletion Syndrome.
Vela-Desojo L, Rojo-Sebastian A, Baron-Rubio M, Badenes D
Movement disorders clinical practice 2019; (6(8)):729-730 doi:10.1002/mdc3.12834.
PMID: 31745490
6
The behavioral phenotype in a cohort of patients with chromosome 18 anomalies: a retrospective observational study.
Allegri B, Ajmone PF, Michelini G, et al.
Italian journal of pediatrics 2025; (51(1)):60 doi:10.1186/s13052-025-01902-2.
PMID: 40001201
7
Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome.
Mello CB, Bueno OFA, Benedetto LM, et al.
Journal of intellectual disability research : JIDR 2019; (63(3)):225-232 doi:10.1111/jir.12568.
PMID: 30536814
8
18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency.
Hashiguchi S, Tomomasa D, Nishikawa T, et al.
Journal of clinical immunology 2024; (44(7)):154 doi:10.1007/s10875-024-01751-4.
PMID: 38896123
9
[Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion].
Pan Q, Hu P, Ou J, et al.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2015; (32(5)):695-9 doi:10.3760/cma.j.issn.1003-9406.2015.05.019.
PMID: 26418989

This guide is for informational purposes only and does not replace professional medical advice. Always consult your child's specialists and pediatrician for specific care coordination and treatment plans.

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