Lethal Hydrocephalus–Cardiac Malformation–Dense Bones Syndrome

Other names
Types
Causes
Common symptoms and signs
Diagnostic tests
Non-pharmacological treatments (therapies & other measures)
Drug treatments
Dietary molecular supplements
Immunity-booster / regenerative / stem-cell” drugs
Surgeries
Preventions
When to see doctors
Foods to favor and to avoid
Frequently Asked Questions

Lethal hydrocephalus–cardiac malformation–dense bones syndrome is a very rare, likely genetic condition seen before birth or at delivery. Babies have hydrocephalus (too much fluid inside the brain’s ventricles), serious structural heart defects, and very dense bones visible on X-rays. The facial appearance may include down-slanting eyelid openings, a bulbous nose, a wide nasal bridge, a small lower jaw, and a long upper lip. In the original family that led doctors to define the syndrome, two brothers born to first-cousin parents were affected, which strongly suggests autosomal recessive inheritance (both parents carry one silent copy of a faulty gene). Because the combination of problems is severe and affects vital organs (brain and heart), the condition has been described as lethal in the perinatal period. Genetic Diseases Center+1

This syndrome is a very rare, likely inherited condition seen in newborns. The baby develops too much fluid in the brain (hydrocephalus), serious heart defects present at birth, and abnormally dense bones seen on X-rays. Because the brain and heart are both affected before birth, the condition is usually lethal in the newborn period despite intensive care. Doctors base the diagnosis on the combination of findings and by ruling out other disorders that can cause similar features. There is no specific medicine that cures the condition; management focuses on stabilizing breathing and circulation, relieving pressure from hydrocephalus when feasible, and supporting the family. Genetic Diseases Center+2PubMed+2

Hydrocephalus means cerebrospinal fluid (CSF) builds up and stretches the brain’s ventricles because production and absorption of CSF are out of balance; this can raise pressure in the skull and damage the developing brain. NCBI+1

The bone finding (“dense bones,” or osteosclerosis) resembles what is seen in some neonatal bone dysplasias (for example, Raine syndrome), which are caused by gene changes that increase pathologic bone formation or mineralization in utero; those disorders can also be lethal. This resemblance is useful for understanding the biology, but it does not mean the same gene is responsible here—the causative gene for Beemer-Ertbruggen syndrome has not been established. PMC+1

Heart defects described with this pattern include complex outflow tract malformations (for example, double-outlet right ventricle and tetralogy of Fallot), which significantly affect circulation in a newborn. accessanesthesiology.mhmedical.com

Because so few cases exist, many details (exact gene, full spectrum, best testing approach) remain uncertain. Authoritative rare-disease summaries emphasize that no further cases were published for decades after the first report in the 1980s, which is why clinicians rely on careful prenatal imaging, postnatal assessment, and broad genetic testing when this triad is suspected. Genetic Diseases Center+1

Other names

Beemer-Ertbruggen syndrome (the name used in rare-disease registries). Genetic Diseases Center+1
Beemer lethal malformation syndrome (textbook/encyclopedia usage). accessanesthesiology.mhmedical.com+1
Hydrocephalus–cardiac defect–osteosclerosis syndrome (descriptive phrase sometimes used in reviews to capture the triad). SpringerLink

Types

There are no formally recognized subtypes because the syndrome is known from extremely few cases. Clinically, doctors may still think about two practical, descriptive forms:

Classic lethal perinatal form – severe hydrocephalus, major heart defect(s), and strikingly dense bones seen on prenatal ultrasound/X-ray; usually incompatible with long-term survival. (This is the form in the original family.) Genetic Diseases Center+1
Theoretical attenuated form – a proposed, not yet proven possibility where milder bone changes or less severe heart/brain findings could permit survival; this has not been documented and should be considered speculative.

Causes

Because only a few patients have ever been reported, the exact cause is unknown. The most responsible explanation is a recessive gene variant that disrupts early development of the brain’s CSF system, the heart’s outflow tracts, and skeletal mineralization. Below are biologically plausible causes and contributors. I’ll note which are evidenced for this specific syndrome (very little) vs. inferred from related conditions.

Autosomal recessive single-gene variant (strongly suggested by affected brothers of first-cousin parents). Evidence source: original case description. Genetic Diseases Center+1
Disruption of CSF flow genes (e.g., ciliary or ventricular development pathways) causing fetal hydrocephalus; inferred from congenital hydrocephalus biology. Genetic Diseases Center
Cardiac neural crest/outflow tract gene defect (e.g., pathways used in tetralogy of Fallot or double-outlet right ventricle). Inferred from the reported heart defects. accessanesthesiology.mhmedical.com
Bone mineralization/osteosclerosis pathway defect (e.g., genes that, when faulty in other diseases, cause diffuse osteosclerosis in newborns, such as FAM20C in Raine syndrome). Analogy, not proven for this syndrome. MDPI
Abnormal WNT signaling in skeletal development (inference from osteosclerotic dysplasias). Analogy. Orpha
Perturbed phosphate regulation in bone (mineralization abnormalities known in neonatal osteosclerotic dysplasias). Analogy. MDPI
Chromosomal microdeletion/duplication affecting multiple developmental genes. General mechanism seen in syndromic hydrocephalus/heart defects. Genetic Diseases Center
Ciliopathy-related pathways (cilia are critical for CSF movement and heart/left–right patterning). General hydrocephalus biology. Genetic Diseases Center
Disturbance of skull bone remodeling leading to dense calvaria and long-bone sclerosis. Analogy to cranial sclerosis entities. Orpha
Embryonic vascular development defects that secondarily impact brain/heart formation. General developmental inference.
Maternal–fetal environmental exposures (e.g., severe teratogen exposure) as a background risk; however, the familial pattern points far more to genetics than exposures. General principle.
Consanguinity increasing the chance of a shared recessive variant (observed in the index family). Direct evidence. Genetic Diseases Center
New (de novo) mutation in a critical developmental gene (theoretically possible but less consistent with sib recurrence in a consanguineous family). Genetic logic.
Epigenetic dysregulation of multiple organ development programs. Theoretical.
Disrupted extracellular matrix signaling affecting heart valves, cranial bones, and brain ventricular lining. Theoretical.
Abnormal notch or TBX signaling in cardiac morphogenesis (pathways implicated in other conotruncal defects). Analogy.
Defects in osteoclast function (reduced bone resorption → increased bone density). Analogy from osteopetrosis/osteosclerosis biology.
Pathways shared by skull sutures and neural tube (explaining both cranial changes and hydrocephalus). Theoretical.
Multigenic/oligogenic mechanism (more than one gene contributing), seen in some complex malformation patterns. Theoretical.
Unknown/novel mechanism unique to this syndrome, not yet mapped because of the extreme rarity. Acknowledged uncertainty.

Common symptoms and signs

In practice, symptoms are mostly detected before birth on ultrasound, or at delivery. Because the syndrome is lethal, long-term childhood symptoms are generally not observed.

Enlarged head (macrocephaly) from hydrocephalus; the skull looks big and round. NCBI
Bulging, tense fontanelle (soft spot looks full) due to raised pressure. National Organization for Rare Disorders
Poor newborn responsiveness because the brain is under pressure. National Organization for Rare Disorders
Breathing difficulty at birth, often related to heart problems or brain pressure. accessanesthesiology.mhmedical.com
Cyanosis (bluish lips/skin) if the heart defect reduces oxygen delivery. accessanesthesiology.mhmedical.com
Weak pulses or signs of poor circulation from structural heart disease. accessanesthesiology.mhmedical.com
Unusual facial features: down-slanting eyelids, bulbous nose, broad nasal bridge, small lower jaw, long upper lip. Genetic Diseases Center
Very dense bones on X-ray (not a feeling symptom, but a key finding). accessanesthesiology.mhmedical.com
Feeding difficulty (poor suck, fatigue) due to heart/brain issues.
Low muscle tone (hypotonia) or, rarely, stiff tone from brain pressure. National Organization for Rare Disorders
Seizure-like events (jerking or staring), which can occur with severe hydrocephalus. National Organization for Rare Disorders
Abnormal prenatal movement patterns noticed on ultrasound (baby moves less).
Polyhydramnios (too much amniotic fluid) in the mother, sometimes seen with severe fetal anomalies.
Poor Apgar scores (low numbers right after birth) because of breathing/circulation difficulties.
Rapid clinical decline after birth due to combined brain and heart involvement.

Diagnostic tests

Because the syndrome is rare and lethal, testing focuses on recognizing the pattern before birth, confirming organ findings, and searching for an underlying genetic cause. Below are the most useful tests and what each one shows.

A) Physical examination (bedside assessment)

Newborn exam – measures head size, checks fontanelle tension, breathing effort, heart sounds, oxygen level, and general responsiveness. This quickly shows macrocephaly, respiratory distress, or cyanosis typical of severe brain/heart disease. National Organization for Rare Disorders
Dysmorphology exam – a specialist documents facial features (down-slanting palpebral fissures, bulbous nose, wide bridge, micrognathia, long philtrum/lip) that, in combination, point toward this specific triad rather than isolated hydrocephalus. Genetic Diseases Center
Family and pregnancy history review – confirms consanguinity and prior affected siblings, which raises suspicion for an autosomal recessive syndrome. Genetic Diseases Center

B) Manual/bedside tests

Head circumference tracking (tape measure) – serial measurements show abnormal rapid head growth from hydrocephalus. National Organization for Rare Disorders
Pulse oximetry – a simple finger/foot sensor that screens oxygen saturation; low levels suggest a critical heart defect.
Four-limb blood pressures – can show differences suggesting obstructed flow or complex cardiac anatomy.
Bedside neurologic checks – tone, reflexes, and suck/swallow help gauge brain function in the setting of hydrocephalus. National Organization for Rare Disorders

C) Laboratory and pathological tests

Basic metabolic panel, calcium/phosphate, and alkaline phosphatase – may hint at disordered bone turnover typical of osteosclerotic states (supportive, not diagnostic for this syndrome). Analogy to osteosclerotic dysplasias. MDPI
Blood gas and lactate – evaluate cardiopulmonary status in a struggling newborn with heart disease.
Chromosomal microarray (CMA) – looks for pathogenic deletions/duplications; useful first-line genetic test in fetuses/newborns with multiple anomalies. General practice in syndromic malformations.
Exome or genome sequencing (trio if possible) – best chance to find a rare recessive variant when a known gene is not established, as in this syndrome. General rare-disease standard.
Pathology (if consented, including autopsy) – can document brain ventricular dilation, specific heart malformations, and bone histology patterns of osteosclerosis, helping researchers understand the biology for future families.

D) Electrodiagnostic tests

Electrocardiogram (ECG) – checks heart rhythm/conduction; baseline data in critical heart disease.
Electroencephalogram (EEG) – records brain waves; useful if seizures are suspected in severe hydrocephalus. National Organization for Rare Disorders
Fetal or neonatal echocardiography (with Doppler) – although an imaging-type study, it is often performed at the bedside and evaluates electrical-mechanical timing and blood flow; it confirms serious structural defects like tetralogy of Fallot or double-outlet right ventricle. accessanesthesiology.mhmedical.com

E) Imaging tests

Prenatal ultrasound (2D + Doppler) – detects ventriculomegaly/hydrocephalus, abnormal heart structures, and may suggest increased bone density (bright, shadowing bones). This is often the first clue to the triad in utero. Genetic Diseases Center
Fetal MRI (brain) – provides detail on ventricular size and associated brain malformations when ultrasound shows severe ventriculomegaly. UCSF Benioff Children’s Hospitals
Postnatal cranial ultrasound – quick bedside way to confirm hydrocephalus through the fontanelle; guides urgent management. Children’s Hospital of Philadelphia
Brain MRI or CT (newborn) – defines the degree of hydrocephalus and any additional brain anomalies that affect care decisions. Children’s Hospital of Philadelphia
Skeletal survey (X-rays) – shows diffuse, abnormally dense bones that help distinguish this syndrome from isolated hydrocephalus/heart disease. accessanesthesiology.mhmedical.com

Non-pharmacological treatments (therapies & other measures)

High-risk pregnancy care and fetal monitoring.
What it is: Serial ultrasounds/MRI in a maternal-fetal medicine center once ventriculomegaly, heart defects, or skeletal changes are suspected. Purpose: Track brain fluid size, cardiac anatomy/function, growth, and delivery planning. How it helps: Timed, specialized delivery improves stabilization opportunities for the newborn and informs family counseling. There is no proven in-utero drug cure for fetal hydrocephalus; care focuses on monitoring and planning. Hydrocephalus Association
Planned delivery at a tertiary NICU with pediatric cardiac and neurosurgical teams.
Purpose: Immediate airway, breathing, and circulation support; rapid imaging; multidisciplinary decision-making. Mechanism: Concentrates expertise and equipment (ventilators, echocardiography, neuroimaging, perfusion), which is crucial when both heart and brain are affected. PubMed
Initial neonatal stabilization (airway, breathing, circulation).
Purpose: Correct low oxygen, low blood pressure, and acidosis to protect brain and heart. Mechanism: Standard neonatal resuscitation with supplemental oxygen, ventilation, and careful fluids provides the physiologic platform for any further intervention. PubMed
Targeted echocardiography and cardiac conference.
Purpose: Define the exact congenital heart defect(s) and decide whether palliation (e.g., prostaglandin-supported ductal flow, staged surgery) is feasible. Mechanism: Anatomy-guided triage predicts whether invasive interventions might meaningfully improve survival or whether comfort-focused care is more appropriate. PubMed+1
Brain imaging and intracranial pressure (ICP) assessment.
Purpose: Confirm hydrocephalus severity and decide on CSF diversion strategy. Mechanism: Cranial ultrasound and MRI quantify ventricular enlargement and guide neurosurgery on shunting vs. conservative measures. Hydrocephalus Association
Cerebrospinal fluid (CSF) diversion—ventriculo-peritoneal (VP) shunt (when appropriate).
Purpose: Reduce intracranial pressure to protect brain tissue and improve comfort. Mechanism: A catheter drains excess CSF from the brain to the abdomen. Feasibility depends on overall stability and prognosis. Hydrocephalus Association
Endoscopic third ventriculostomy (ETV) in selected cases.
Purpose: Create a bypass for CSF flow if anatomy allows (usually obstructive hydrocephalus). Mechanism: Endoscopic fenestration of the third ventricle floor; outcomes in infants are influenced by associated conditions such as heart disease. PMC+1
Comfort-focused/palliative care pathway.
Purpose: When survival chances are extremely low, prioritize comfort, bonding, and symptom relief. Mechanism: Family-led goals of care; avoid burdensome procedures with little benefit; optimize pain relief and dignity. Genetic Diseases Center
Nutritional support and feeding therapy.
Purpose: Ensure adequate calories and prevent aspiration. Mechanism: NG/OG tube feeding, lactation support, and, if long-term survival is possible, evaluation for gastrostomy. Hydrocephalus Association
Ventilatory support (non-invasive or invasive) as needed.
Purpose: Treat respiratory failure from cardiac dysfunction or neurologic compromise. Mechanism: CPAP or mechanical ventilation to maintain oxygenation and CO₂ removal while definitive decisions are made. PubMed
Infection prevention bundles in the NICU.
Purpose: Minimize sepsis and shunt infections, which worsen outcomes. Mechanism: Hand-hygiene protocols, line bundles, and peri-operative sterile technique for neurosurgical procedures. Hydrocephalus Association
Family counseling and genetic consultation.
Purpose: Explain rarity and likely autosomal-recessive inheritance (consanguineous family in the original report), discuss recurrence risk, and options for future pregnancies. Mechanism: Pedigree review, discussion of available (though limited) testing panels. Genetic Diseases Center
Physical and occupational therapy (if survival permits).
Purpose: Prevent contractures, support positioning, and promote developmental comfort. Mechanism: Low-intensity range-of-motion and positioning plans tailored to fragility. Hydrocephalus Association
Pain and agitation management using non-drug methods.
Purpose: Reduce distress while minimizing sedatives in fragile neonates. Mechanism: Swaddling, skin-to-skin contact, low-stimulus environment, sucrose for minor procedures. Hydrocephalus Association
Ethics consultation and shared decision-making meetings.
Purpose: Align interventions with the family’s values given the high likelihood of lethality. Mechanism: Structured, interdisciplinary conversations about benefits, burdens, and alternatives. Genetic Diseases Center
If shunt placed: shunt care education.
Purpose: Teach families signs of shunt malfunction/infection if discharge becomes possible. Mechanism: Written and verbal education improves early recognition. Hydrocephalus Association
Cardiac palliation or surgery (highly selective).
Purpose: In subset with potentially reparable defects and overall viability, consider staged palliation. Mechanism: Lesion-specific; outcomes depend strongly on combined neurologic and systemic status. PubMed
Bereavement and psychosocial support.
Purpose: Support family mental health during and after end-of-life care. Mechanism: Counseling, spiritual care, peer support groups. Genetic Diseases Center
Research autopsy/phenotyping (with consent).
Purpose: Advance understanding of this ultra-rare disorder for future families. Mechanism: Systematic post-mortem examination and specimen banking. Genetic Diseases Center
Registry/rare-disease advocacy engagement.
Purpose: Connect families with resources and expert networks in hydrocephalus and rare disease communities. Mechanism: Education and support (e.g., Hydrocephalus Association) even if the exact syndrome is unique. Hydrocephalus Association

Drug treatments

Important safety note: There are no FDA-approved medications that treat this specific syndrome. Any drugs are used only to manage complications of hydrocephalus, congenital heart disease, seizures, pain, or hemodynamic instability, and neonatal dosing is highly specialized. Always defer to a neonatologist/pediatric cardiologist/pediatric neurosurgeon. Genetic Diseases Center+1

Below are examples of drugs commonly used in NICUs for related problems, with FDA labeling references (drug labels are hosted at accessdata.fda.gov). Usage in neonates may be off-label; precise dosing/timing depend on weight, gestational age, organ function, and the exact lesion.

Alprostadil (Prostaglandin E1).
Class: Prostaglandin; Purpose: Keep the ductus arteriosus open in duct-dependent heart lesions while planning surgery. Mechanism: Smooth-muscle relaxation maintains ductal patency to sustain systemic or pulmonary blood flow. Timing/Dose: Continuous IV titrated by specialists in the ICU. Side effects: Apnea, hypotension, fever, flushing. FDA label: PGE1 labeling on accessdata.fda.gov (alprostadil injection). For duct-dependent lesions only. PubMed
Furosemide.
Class: Loop diuretic; Purpose: Reduce pulmonary/systemic congestion in heart failure. Mechanism: Inhibits NKCC2 in the loop of Henle to increase urine output, lowering preload. Timing/Dose: Carefully titrated; monitor electrolytes/ototoxicity. Side effects: Electrolyte loss, dehydration, ototoxicity at high doses. FDA label available at accessdata.fda.gov. PubMed
Spironolactone.
Class: Aldosterone antagonist; Purpose: Adjunct diuresis/potassium-sparing in selected infants with heart failure. Mechanism: Blocks mineralocorticoid receptors in the distal nephron, limiting potassium loss. Cautions: Hyperkalemia, renal impairment. FDA label available. PubMed
Captopril.
Class: ACE inhibitor; Purpose: Afterload reduction in certain heart failure settings. Mechanism: Inhibits conversion of angiotensin I→II, decreasing afterload and improving forward flow. Cautions: Hypotension, renal dysfunction, hyperkalemia. FDA label available. PubMed
Dopamine (or Dobutamine).
Class: Inotropes/vasoactive agents; Purpose: Support blood pressure and cardiac output during decompensation. Mechanism: Beta-adrenergic stimulation (± dopaminergic/alpha effects depending on dose). Risks: Tachyarrhythmias, increased myocardial oxygen demand. FDA labels available. PubMed
Digoxin.
Class: Cardiac glycoside; Purpose: Rate control/contractility support in selected lesions/arrhythmias. Mechanism: Inhibits Na⁺/K⁺-ATPase increasing intracellular calcium. Cautions: Narrow therapeutic index, arrhythmias, requires level monitoring. FDA label available. PubMed
Phenobarbital.
Class: Barbiturate anticonvulsant; Purpose: First-line seizure control in many NICUs. Mechanism: Enhances GABA-mediated inhibition. Cautions: Respiratory depression, sedation; monitor levels. FDA label available. Hydrocephalus Association
Levetiracetam.
Class: Anticonvulsant; Purpose: Alternative/adjunct for neonatal seizures. Mechanism: Binds SV2A to modulate neurotransmitter release. Notes: Often used off-label in neonates; generally favorable safety profile. FDA label available. Hydrocephalus Association
Acetazolamide.
Class: Carbonic anhydrase inhibitor; Purpose: Rarely considered for CSF production reduction; not a substitute for effective CSF diversion. Mechanism: Decreases CSF formation; benefits in infants are limited. Risks: Metabolic acidosis, electrolyte disturbances. FDA label available. Hydrocephalus Association
Morphine (or Fentanyl).
Class: Opioid analgesics; Purpose: Procedural analgesia/comfort care for severe distress. Mechanism: Mu-opioid receptor agonism blunts pain responses. Cautions: Respiratory depression; use NICU protocols. FDA labels available. Hydrocephalus Association
Midazolam.
Class: Benzodiazepine sedative; Purpose: Short-term sedation for procedures/ventilation. Mechanism: GABA-A modulation. Risks: Hypotension, respiratory depression; monitor closely. FDA label available. Hydrocephalus Association
Epinephrine (low-dose infusion).
Class: Catecholamine; Purpose: Refractory hypotension or low cardiac output. Mechanism: Beta/alpha stimulation improves inotropy and vascular tone. Risks: Arrhythmias, hyperglycemia. FDA label available. PubMed
Propranolol.
Class: Beta-blocker; Purpose: Selected arrhythmias or outflow states per cardiology. Mechanism: Blocks beta-adrenergic receptors to control rate/contractility. Cautions: Bradycardia, hypoglycemia in neonates. FDA label available. PubMed
Milrinone.
Class: PDE-3 inhibitor; Purpose: Inotropy and afterload reduction in low-output states post-op/critical lesions. Mechanism: Increases cAMP in myocardium/vasculature. Risks: Hypotension, arrhythmias. FDA label available. PubMed
Antibiotics (e.g., ampicillin + gentamicin) when infection suspected.
Purpose: Treat early-onset neonatal sepsis or shunt infection. Mechanism: Pathogen-directed antimicrobial therapy per culture/antibiogram. Risks: Nephro/ototoxicity (aminoglycosides). FDA labels available. Hydrocephalus Association
Proton-pump inhibitor/H2 blocker (select cases).
Purpose: Stress-ulcer prophylaxis if indicated. Mechanism: Reduce gastric acid. Risks: Altered microbiome; use judiciously. FDA labels available. Hydrocephalus Association
Electrolyte/trace supplementation (e.g., sodium, potassium, calcium).
Purpose: Replace diuretic-related losses and support cardiac/neurologic function. Mechanism: Corrects specific deficits measured on labs. Risks: Overcorrection; requires close monitoring. (Labeled injectable electrolytes available on FDA). Hydrocephalus Association
Surfactant (if respiratory distress syndrome co-exists in prematurity).
Purpose: Improve lung compliance and oxygenation. Mechanism: Replenishes alveolar surfactant in premature lungs. FDA labels available. Hydrocephalus Association
Vasopressin (selected refractory shock).
Purpose: Augment vascular tone in catecholamine-refractory hypotension. Mechanism: V1 receptor-mediated vasoconstriction. Risks: Ischemia; expert use only. FDA label available. PubMed
Vitamin K at birth (standard neonatal care).
Purpose: Prevent hemorrhagic disease of the newborn. Mechanism: Cofactor for clotting factor γ-carboxylation. FDA label available. Hydrocephalus Association

Why no disease-specific drug list? The condition itself does not have a known molecular target like FAM20C-related Raine syndrome (a different osteosclerotic disorder) where even then there is no targeted therapy; management is still supportive. PMC+2Lippincott Journals+2

Dietary molecular supplements

For a critically ill neonate, “supplements” are not independently therapeutic and can be harmful if given outside clinical protocols. Nutrition is usually provided as breast milk/fortified milk and parenteral nutrition designed by the NICU team. The items below describe nutrients that clinicians may manage—not over-the-counter products for family use.

Breast milk (human milk) with fortifier.
What/why: Human milk supports immunity and GI tolerance; fortifiers add protein/minerals for growth. Mechanism: Immunologic factors; balanced macro/micronutrients. Use: Guided by NICU dietitians; not a “home supplement.” Hydrocephalus Association
Parenteral amino acids and lipids.
Why: If enteral feeds aren’t possible initially. Mechanism: IV essential nutrients prevent catabolism and support organ healing. Use: Pharmacy-compounded; closely monitored. Hydrocephalus Association
Calcium and phosphorus.
Why: Bone mineral support, especially with diuretics. Mechanism: Mineralization substrates; prevent metabolic bone disease of prematurity. Use: Lab-guided. Hydrocephalus Association
Vitamin D.
Why: Bone health and calcium absorption. Mechanism: Enhances intestinal Ca/P uptake; supports skeletal development. Use: Standard neonatal dosing per guidelines. Hydrocephalus Association
Iron (when appropriate).
Why: Prevent/treat anemia in growing infants. Mechanism: Hemoglobin synthesis. Use: Start when enteral feeds are established; timing individualized. Hydrocephalus Association
Electrolytes (Na⁺/K⁺/Mg²⁺).
Why: Replace losses from diuretics/illness. Mechanism: Maintain membrane potentials and cardiac rhythm. Use: Lab-based titration only. Hydrocephalus Association
Zinc.
Why: Growth and wound healing. Mechanism: Enzyme cofactor for protein synthesis. Use: Added to parenteral/enteral regimens if deficient. Hydrocephalus Association
Selenium.
Why: Antioxidant enzyme function. Mechanism: Cofactor for glutathione peroxidases. Use: Part of parenteral nutrition micronutrient mix. Hydrocephalus Association
Carnitine (select cases).
Why: Fatty-acid transport into mitochondria. Mechanism: Facilitates β-oxidation; may be added if deficiency suspected. Use: Specialist-guided. Hydrocephalus Association
Folate/B-complex (standard neonatal needs).
Why: Cell division and neurologic development. Mechanism: Nucleotide synthesis; myelination support. Use: Included in TPN/fortifiers per protocol. Hydrocephalus Association

Immunity-booster / regenerative / stem-cell” drugs

There are no approved immune-booster or stem-cell drugs proven to treat or reverse this syndrome. Experimental cell therapies are not standard of care for lethal neonatal malformation syndromes. Care should focus on stabilization, comfort, and family-centered decision-making. Genetic Diseases Center

Standard immunization schedule when feasible.
Function: Protects against vaccine-preventable disease during any survivable period. Mechanism: Antigen-specific adaptive immunity. Dose: Per national schedules. Hydrocephalus Association
Vitamin K (again, routine).
Function: Prevents bleeding; supports safe procedures. Mechanism: Clotting factor activation. Dose: Single IM dose at birth. Hydrocephalus Association
No stem-cell drugs indicated.
Explanation: Stem-cell therapies target marrow/immune or specific tissue regeneration; they do not correct combined lethal brain-heart developmental malformations in neonates. Genetic Diseases Center
No “immune boosters” beyond standard nutrition and vaccines.
Explanation: Unsupported products can be harmful in neonates; immunity is best supported by adequate nutrition and routine prophylaxis. Hydrocephalus Association

Surgeries

Ventriculo-peritoneal (VP) shunt.
Procedure: Implant catheter from a brain ventricle to the abdomen to drain CSF. Why: To relieve pressure from hydrocephalus if overall condition allows. Notes: Infection/malfunction risks; decisions individualized. Hydrocephalus Association
Endoscopic third ventriculostomy (ETV).
Procedure: Endoscopic opening in the floor of the third ventricle. Why: Alternative to shunt in selected obstructive hydrocephalus; success influenced by patient factors, including heart disease. PMC+1
Cardiac palliation or repair (lesion-specific).
Procedure: From catheter-based interventions to staged surgeries. Why: To stabilize circulation when anatomy and overall prognosis make benefit plausible. PubMed
Feeding tube placement (gastrostomy), if prolonged survival occurs.
Procedure: Surgical tube into the stomach. Why: Safe nutrition when oral feeding is unsafe. Hydrocephalus Association
Tracheostomy (rare, only if long-term survival and ventilation dependence).
Procedure: Surgical airway. Why: Facilitate chronic ventilatory support and comfort if long-term care is planned. Hydrocephalus Association

Preventions

Because this is likely genetic and extremely rare, “prevention” targets future pregnancies and general maternal-fetal health, not cure.

Pre-conception genetic counseling, especially with consanguinity or prior affected infant. Genetic Diseases Center
Early anomaly ultrasound (11–14 and 18–22 weeks) and fetal echocardiography when indicated. Hydrocephalus Association
Maternal infection prevention (vaccines, hygiene) to reduce other causes of fetal CNS injury. Hydrocephalus Association
Folic acid supplementation pre-pregnancy (general neural development support). Hydrocephalus Association
Avoid teratogens (alcohol, certain drugs) during pregnancy. Hydrocephalus Association
Manage maternal illnesses (e.g., diabetes) optimally. Hydrocephalus Association
Plan delivery at a tertiary center when major anomalies are suspected. Hydrocephalus Association
Discuss reproductive options (prenatal diagnosis where feasible, IVF with donor gametes if AR inheritance suspected). Genetic Diseases Center
Enroll in rare-disease support networks for education and planning. Hydrocephalus Association
Newborn prophylaxis (vitamin K, vaccines) in any survivable scenario. Hydrocephalus Association

When to see doctors

Before pregnancy: Meet a genetic counselor if there is consanguinity or a prior affected child. Genetic Diseases Center
During pregnancy: If ultrasound suggests enlarged brain ventricles, heart defects, or skeletal density changes, refer immediately to maternal-fetal medicine and pediatric cardiology. Hydrocephalus Association
At birth: Any signs of respiratory distress, poor perfusion, seizures, very large head size, or abnormal tone require urgent NICU evaluation. PubMed+1

Foods to favor and to avoid

Context: In most cases, feeding is via tube or specialized NICU plans. If an infant later tolerates oral feeds, pediatric dietitians guide choices.

Favor: Breast milk; iron-fortified infant formula (if not breastfeeding); vitamin-D per pediatric advice; adequate fluids; later age-appropriate purees rich in protein (as guided); foods preventing constipation (as age-appropriate). Avoid: Honey before age 1; choking hazards; overly salty/sugary foods; unpasteurized products; herbal/OTC “immune boosters.” Always follow individualized NICU/pediatric guidance. Hydrocephalus Association

Frequently Asked Questions

Is this the same as Raine syndrome?
No. Raine syndrome is another osteosclerotic disorder with different hallmark features and FAM20C mutations; our syndrome’s defining triad (hydrocephalus + heart malformations + dense bones) corresponds to Beemer-Ertbruggen syndrome, reported only in one family. Genetic Diseases Center+1
Is it inherited?
Likely autosomal recessive given consanguinity in the original family, but gene(s) are not established. Genetic Diseases Center
How is it diagnosed?
By recognizing the triad on imaging and exam, ruling out other causes, and using expert review; genetic testing may be exploratory. Genetic Diseases Center
Can hydrocephalus be treated before birth?
There’s no proven fetal medication; management is serial monitoring and delivery planning. Hydrocephalus Association
What are the main treatments after birth?
Stabilization, imaging, possible CSF shunt/ETV, cardiac evaluation/palliation if feasible, and palliative care where appropriate. PubMed+2PMC+2
Are there medicines that fix the syndrome?
No disease-specific drugs exist; medications treat complications (e.g., heart failure, seizures). Genetic Diseases Center
What is the outlook?
Published experience indicates a lethal course in the newborn period in reported cases. Genetic Diseases Center
Could a shunt or heart surgery cure it?
They can address specific problems (pressure or circulation) but do not cure the underlying multi-system malformation. Hydrocephalus Association+1
Should families consider genetic counseling?
Yes—both for understanding recurrence risk and discussing reproductive options. Genetic Diseases Center
Is long-term survival possible?
No long-term survivors have been robustly reported for this specific syndrome; decisions are individualized. Genetic Diseases Center
How common is it?
Extremely rare—only one family reported in detail. Genetic Diseases Center
What’s the difference between “dense bones” and brittle bones?
“Dense bones” (osteosclerosis) look whiter on X-ray; they are not the same as brittle bones (osteogenesis imperfecta). Genetic Diseases Center
What specialists are involved?
Maternal-fetal medicine, neonatology, pediatric cardiology, pediatric neurosurgery, genetics, palliative care. PubMed+1
Are there patient groups that can help?
Hydrocephalus Association and rare-disease organizations provide education/support even when the exact syndrome is unique. Hydrocephalus Association
Where can clinicians read the core description?
The GARD/NORD entry summarizes the original Beemer-Ertbruggen report and key features. Genetic Diseases Center

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