How is Schuurs-Hoeijmakers syndrome inherited?

Schuurs-Hoeijmakers syndrome follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How rare is Schuurs-Hoeijmakers syndrome?

Schuurs-Hoeijmakers syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Schuurs-Hoeijmakers syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Schuurs-Hoeijmakers syndrome?

Information about treatment is currently limited for this condition.

What are the unique facial features associated with Schuurs-Hoeijmakers syndrome?

People with Schuurs-Hoeijmakers syndrome often have distinct facial features. These can include full, arched eyebrows, widely spaced eyes, down-slanting eye openings, long eyelashes, and drooping eyelids. Other features may be low-set ears, a bulbous nasal tip, a flat area above the upper lip, a wide mouth with downturned corners, a thin upper lip, and gaps between the teeth.

How does Schuurs-Hoeijmakers syndrome affect speech and language development?

Schuurs-Hoeijmakers syndrome can significantly impact speech and language development. Many individuals with this condition experience difficulties in these areas, which can lead to delays in communication skills. These challenges may require additional support and therapy to help improve their abilities.

What are the potential complications of Schuurs-Hoeijmakers syndrome?

Individuals with Schuurs-Hoeijmakers syndrome may face various complications. These can include low muscle tone in infancy, seizures, and congenital abnormalities that affect the heart, brain, or eyes. It's important for families to work closely with healthcare providers to monitor and manage these potential issues.

What should families consider when planning for the future of a child with Schuurs-Hoeijmakers syndrome?

When planning for the future of a child with Schuurs-Hoeijmakers syndrome, families should consider the child's developmental needs and potential challenges. This includes thinking about educational support, therapies for speech and language, and any medical care that may be necessary. Early intervention and ongoing support can help improve outcomes for children with this condition.

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Schuurs-Hoeijmakers syndrome (MRD17) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include very common findings: Intellectual disability, Delayed speech and language development, Global developmental delay, and Abnormal facial shape; and common findings: Seizure, Hypertelorism, Bulbous nose, and Constipation and others. 71 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Seizure, Aggressive behavior, Intellectual disability
Heart and blood vessels	4	Abnormal cardiac septum morphology, Bicuspid aortic valve, Ventricular septal defect
Arms and legs	4	Large hands, Long foot, Slender finger
Eyes	4	Strabismus, Nystagmus, Ptosis
Head and neck	3	Thin upper lip vermilion, Abnormal facial shape, Microcephaly
Digestive system	3	Constipation, Feeding difficulties, Gastroesophageal reflux
Muscles	2	Generalized hypotonia, Shrinkage of the cerebellum (cerebellar atrophy)
Growth and development	1	Failure to thrive
Bones and joints	1	Sideways curvature of the spine (scoliosis)
Kidneys and urinary system	1	Abnormal renal morphology

GeneReviews

Clinical Guidance

To date, approximately 35 individuals with PACS1 neurodevelopmental disorder (PACS1-NDD) have been described in the literature [, , , , , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Select Features of PACS1 Neurodevelopmental Disorder

Feature	Proportion of Persons w/Feature	Comment
DD/ID	35/35	Moderate impairment in most; Language skills more severely affected than motor skills Feeding/
GI issues	20-22/35	Gastroesophageal reflux constipation are most common manifestations.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Schuurs-Hoeijmakers syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with PACS1 neurodevelopmental disorder (PACS1-NDD), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with PACS1 Neurodevelopmental Disorder

System/Concern	Evaluation	Comment
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech/language eval; Eval for early intervention/ special education Feeding issues /
Gastrointestinal manifestations	Gastroenterology/ nutrition/ feeding team eval	To incl eval of aspiration risk nutritional status; Consider eval for gastric tube placement in those w/severe feeding/growth issues or aspiration risk.; Additional eval may be needed for constipation symptoms.
Neurologic	Neurologic eval	Consider EEG if seizures are a concern. Psychiatric /
Behavioral	Neuropsychiatric eval	Individuals age 12 mos: screen for behavior concerns incl features of autism spectrum disorder
Cardiovascular	Echocardiogram

Source: GeneReviews — "PACS1 Neurodevelopmental Disorder"

GeneReviews

Clinical Guidance

Individuals with PACS1-NDD should avoid any known seizure triggers (e.g., sleep deprivation, alcohol use, missed medications).

Source: GeneReviews — "PACS1 Neurodevelopmental Disorder"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "PACS1 Neurodevelopmental Disorder"

Clinical Trials

1 trial found

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with PACS1 Neurodevelopmental Disorder

System/Concern	Evaluation	Frequency
Development	Monitor developmental progress educational needs.	At each visit Feeding
Cardiovascular	Monitor closure of septal defects by echo if present not repaired.	Annually or per cardiologist
Genitourinary	Monitor renal function if renal malformation is present.	Annually or per nephrologist Miscellaneous/
Other	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) care coordination.	At each visit

Source: GeneReviews — "PACS1 Neurodevelopmental Disorder"

Phenotype severity distribution: 4 very common features, 16 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.

37 publications have been identified in PubMed for Schuurs-Hoeijmakers syndrome. Research spans Case Report / Case Series (57%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (8%).

Research Type	Count	% of Total
Patient case studies	21	57%
Laboratory research	5	14%
Disease patterns and progression	3	8%
Testing and diagnosis research	2	5%
Research summaries	2	5%
Clinical study results	2	5%
Other research	1	3%
New treatment approaches	1	3%

Recent Publications

He Y (2026). [PMID: 41574619](https://pubmed.ncbi.nlm.nih.gov/41574619/). *International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience*. [Case Report / Case Series]
Guo W (2026). [PMID: 41810193](https://pubmed.ncbi.nlm.nih.gov/41810193/). *Translational pediatrics*. [Case Report / Case Series]
Ketenci-İşlek S (2026). [PMID: 40538467](https://pubmed.ncbi.nlm.nih.gov/40538467/). *Molecular syndromology*. [Epidemiology / Natural History]
Sabbagh Q (2026). [PMID: 41882293](https://pubmed.ncbi.nlm.nih.gov/41882293/). *Eur J Hum Genet*. [Epidemiology / Natural History]
Chaabouni M (2026). [PMID: 41854122](https://pubmed.ncbi.nlm.nih.gov/41854122/). *Clinical genetics*. [Other]
Ünsel-Bolat G (2026). [PMID: 41466099](https://pubmed.ncbi.nlm.nih.gov/41466099/). *Developmental neurobiology*. [Case Report / Case Series]
Samara AA (2026). [PMID: 41595474](https://pubmed.ncbi.nlm.nih.gov/41595474/). *Genes*. [Case Report / Case Series]
Celik VD (2026). [PMID: 41940405](https://pubmed.ncbi.nlm.nih.gov/41940405/). *Mol Syndromol*. [Clinical Trial Publication]
Javier Mérida De la Torre F (2026). [PMID: 42195009](https://pubmed.ncbi.nlm.nih.gov/42195009/). *Genes (Basel)*. [Case Report / Case Series]
Miao H (2026). [PMID: 41898828](https://pubmed.ncbi.nlm.nih.gov/41898828/). *Genes (Basel)*. [Review / Meta-Analysis]

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615009

Orphanet

European rare disease database

Orphanet:329224

GARD

Genetic and Rare Diseases Info Center

GARD:13043

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for PACS1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Schuurs-Hoeijmakers syndrome

Schuurs-Hoeijmakers syndrome is a rare genetic condition. It is characterized by a range of developmental challenges, including mild to moderate intellectual disability and developmental delays, with speech and language development often being more affected. People with this condition also have unique facial features. These can include full, arched eyebrows, eyes that appear widely spaced (hypertelorism), down-slanting eye openings, long eyelashes, drooping eyelids (ptosis), low-set and simple ears, a bulbous nasal tip, a flat area above the upper lip (philtrum), a wide mouth with downturned corners, a thin upper lip, and gaps between the teeth (diastema). Additional signs may include low muscle tone in infancy, seizures, undescended testicles in males, and other congenital abnormalities that affect the heart, brain, or eyes.

Common signs and symptoms of Schuurs-Hoeijmakers syndrome include intellectual disability and developmental delays, with notable difficulties in speech and language development. People with this condition can also have distinct facial features such as full, arched eyebrows, widely spaced eyes, down-slanting eye openings, long eyelashes, drooping eyelids, low-set ears, a bulbous nasal tip, a flat philtrum, and a wide mouth with downturned corners. Other observed symptoms may include low muscle tone in infancy, seizures, undescended testicles in males, and sometimes congenital abnormalities involving the heart, brain, or eyes.

This condition is caused by changes in a gene known as PACS1. It is inherited in an autosomal dominant manner, which means that a change in just one copy of the gene can be enough to cause the condition. This genetic change leads to the range of symptoms seen in Schuurs-Hoeijmakers syndrome. Associated genes include PACS1.

Kisho

Schuurs-Hoeijmakers syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Schuurs-Hoeijmakers syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Schuurs-Hoeijmakers syndrome?

What are the symptoms of Schuurs-Hoeijmakers syndrome?

What causes Schuurs-Hoeijmakers syndrome?

How is Schuurs-Hoeijmakers syndrome inherited?

How rare is Schuurs-Hoeijmakers syndrome?

How is Schuurs-Hoeijmakers syndrome diagnosed?

Are there treatments for Schuurs-Hoeijmakers syndrome?

What are the unique facial features associated with Schuurs-Hoeijmakers syndrome?

How does Schuurs-Hoeijmakers syndrome affect speech and language development?

What are the potential complications of Schuurs-Hoeijmakers syndrome?

What should families consider when planning for the future of a child with Schuurs-Hoeijmakers syndrome?