Shokeir syndrome is a rare and often lethal condition that starts before birth. Babies move very little in the womb (called fetal akinesia). Because of the lack of movement, they develop multiple joint contractures (arthrogryposis), typical facial features, and under-developed lungs (pulmonary hypoplasia). Many affected pregnancies sadly end in stillbirth or the baby dies soon after birth from severe breathing problems. PSS is usually autosomal recessive (both parents silently carry a non-working gene). PMC+2orpha.net+2

Shokeir syndrome is a severe condition that begins in the womb. The baby’s nerves or muscles (or the connection between them) do not work properly. Because of this, the baby hardly moves. When a baby does not move, joints become stiff and bent (contractures), the face looks typical for this condition, and the lungs do not grow well. Many babies are stillborn, and most live-born babies pass away early because the lungs are too small to support breathing. Families usually did nothing to cause this. In many cases, the cause is genetic and follows an autosomal recessive pattern, but in some, the cause is an immune problem from the mother’s antibodies. Diagnosis is most often made before birth using ultrasound that shows little or no movement, bent limbs, extra skin folds (pterygia) in some forms, and signs that the lungs and chest are not moving normally. PMC+2Radiopaedia+2

Shokeir syndrome usually means Pena–Shokeir syndrome type 1, also called the fetal akinesia (or hypokinesia) deformation sequence (FADS). In plain English, it is a pattern of birth problems caused by very little movement of the fetus in the womb. When a baby cannot move normally for many weeks before birth, the joints become fixed (contractures), the face may look different, growth is poor, and the lungs may stay too small (pulmonary hypoplasia). Sadly, it is often severe and can be life-limiting. Doctors call it a “sequence” rather than a single disease because many different underlying conditions can reduce fetal movement and lead to the same outward picture. rarediseases.info.nih.gov+2orpha.net+2

There is also a type 2 (“Shokeir type II”) that is better known as COFS (cerebro-oculo-facio-skeletal) syndrome. COFS is a separate, DNA-repair disorder with brain, eye, facial, and skeletal problems; it is not just reduced movement. It is grouped with disorders such as Cockayne syndrome and has different genetic causes. NINDS+2orpha.net+2

Why does it happen?

PSS is not one single gene disease. It’s a pattern caused by many possible problems that reduce fetal movement. Causes include:

• Single-gene conditions affecting the neuromuscular junction or motor neurons (e.g., CHRNG/CHRNA1/CHRND, DOK7, RAPSN, MUSK, and others in the same pathway). Nature+1

• Related lethal congenital contracture syndromes (LCCS) such as LCCS1 (Finnish type) caused by GLE1 variants—this overlaps clinically with PSS but is a separate diagnosis. PMC+1

• Acquired/immune causes: in a small number of pregnancies, maternal antibodies (from a mother with myasthenia gravis or even asymptomatic) block the fetal acetylcholine receptor, reducing movement and causing an “arthrogryposis phenotype.” This is called fetal acetylcholine receptor antibody–related disorders (FARAD/FARIS) and can sometimes be modified by treating the mother during pregnancy. PMC+2PMC+2

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Other names

• Pena–Shokeir syndrome (PSS)

• Fetal akinesia/hypokinesia deformation sequence (FADS)

• Arthrogryposis multiplex congenita with pulmonary hypoplasia

• Pseudotrisomy 18 phenotype (because some features can mimic trisomy 18 even though chromosomes are normal)

• Shokeir syndrome type 1 (FADS) and type 2 (COFS)

These terms appear in medical references that discuss the same clinical picture caused by decreased fetal movement and, separately, the COFS entity. Orphan Anesthesia+1

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Types

1. Type 1 (FADS / classic Pena–Shokeir)
   This is the movement-based sequence: very decreased fetal movement leads to joint contractures, facial changes, growth restriction, short umbilical cord, and small lungs. Many babies die before or shortly after birth because the lungs are too small. The cause can be genetic (muscle, nerve, or neuromuscular-junction disorders) or non-genetic (uterine constraint, severe oligohydramnios, etc.). PubMed+1

2. Type 2 (COFS)
   This is a degenerative DNA-repair disorder with brain, eye (cataracts), facial, and skeletal involvement. It has different genes (e.g., ERCC family) and a broader neurodegenerative picture. Although the eponym includes Shokeir, it is clinically distinct from FADS. NINDS+1

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Causes

Think of Shokeir syndrome (type 1/FADS) as the end result of long-lasting decreased fetal movement. Many conditions can sit “upstream” and cause the movement problem. Below are 20 well-described causes, grouped by system:

1. Neuromuscular-junction (NMJ) genes – RAPSN
   RAPSN mutations can produce a severe congenital myasthenic syndrome so the fetus cannot move well; this can present as FADS. rarediseases.info.nih.gov

2. NMJ – DOK7
   DOK7-related congenital myasthenic syndrome may severely weaken fetal muscles, again lowering movement and leading to the FADS pattern. rarediseases.info.nih.gov

3. NMJ – MUSK
   Pathogenic MUSK variants were identified as a cause of lethal FADS in a Dutch founder population, proving NMJ failure can directly cause the sequence. Nature

4. NMJ – Acetylcholine receptor subunits (CHRNA1, CHRNB1, CHRND, CHRNG)
   Defects in receptor subunits at the NMJ impair signal transmission from nerve to muscle, causing reduced fetal movement. Nature

5. Congenital structural myopathies – ACTA1 (skeletal muscle actin)
   Severe actin-related myopathy makes muscle fibers too weak or poorly formed for normal motion in utero. gimjournal.org

6. Congenital myopathy – TTN (titin)
   Large titin variants can cause early, severe muscle weakness and fetal hypokinesia. gimjournal.org

7. Congenital myopathy – NEB (nebulin)
   Nebulin-related myopathy causes hypotonia and decreased movement; when very severe during gestation, the FADS picture can result. gimjournal.org

8. Myopathy – KLHL40/KLHL41
   These genes are associated with severe neonatal myopathies with fetal akinesia and arthrogryposis. gimjournal.org

9. Thin-filament myopathy – TPM2 (beta-tropomyosin)
   Defective contraction at the sarcomere reduces fetal activity and can cause contractures. gimjournal.org

10. Anterior horn cell / motor neuron disorders – GLE1 (LCCS)
    Lethal congenital contracture syndromes (e.g., GLE1) produce extreme fetal akinesia and the same “deformation sequence.” PubMed

11. Central nervous system malformations
    If the brain or spinal cord cannot generate or transmit movement signals, fetal akinesia follows (examples include severe brain malformations). PubMed

12. Peripheral nerve disorders
    When nerves do not conduct signals well, muscles cannot move, producing the sequence picture. PubMed

13. Restrictive dermopathy and severe connective-tissue skin diseases
    Very tight skin physically restricts movement; long-lasting restriction causes joint contractures and the FADS profile. PubMed

14. External mechanical constraint (severe oligohydramnios, uterine anomalies)
    Too little amniotic fluid or a very tight uterine environment prevents normal motion, leading to fixed joints and facial molding. PubMed

15. Placental insufficiency with chronic fetal compromise
    Poor placental function can reduce energy and tone for movement, contributing to growth restriction and akinesia. (Inference consistent with FADS frameworks.) gimjournal.org

16. Maternal myasthenia gravis (transplacental antibodies)
    Maternal antibodies can block the fetal NMJ, causing transient fetal myasthenia and reduced movement. PubMed

17. Chromosomal abnormalities with overlapping phenotype (e.g., trisomy 18-like appearance without aneuploidy)
    Some FADS cases mimic trisomy 18 externally (“pseudotrisomy 18”), even with normal karyotype. Radiopaedia

18. Teratogenic/toxic exposures
    Case reports link severe exposures (e.g., cocaine) to a Pena–Shokeir phenotype, likely via CNS injury and loss of movement. Pediatric Neurology Briefs+1

19. Multigene/unknown genetic causes (over 160 genes implicated overall)
    Modern studies show very high genetic heterogeneity, and many cases still lack a single known gene. gimjournal.org

20. COFS (type 2) as a distinct “Shokeir type”
    Although clinically different, COFS (DNA-repair gene defects such as ERCC6/ERCC2/ERCC5) has historically been labeled “Pena–Shokeir type II.” It should be separated because its biology and findings extend beyond movement. NINDS+1

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Common signs and symptoms

1. Markedly decreased fetal movement noted on ultrasound or by the mother. This is the earliest and central sign. rarediseases.info.nih.gov

2. Multiple joint contractures (arthrogryposis)—hips, knees, elbows, wrists, and fingers may be fixed in bent positions. orpha.net

3. Pulmonary hypoplasia (small lungs) causing severe breathing trouble at birth; this is the main life-threatening problem. PubMed

4. Intrauterine growth restriction (IUGR)—the baby is smaller than expected. PubMed

5. Short umbilical cord—a clue that the fetus did not move much. PubMed

6. Facial differences such as small jaw (micrognathia), low-set ears, high palate, and sometimes a “mask-like” face due to low movement. orpha.net

7. Foot deformities such as clubfoot or rocker-bottom feet. PreventionGenetics

8. Finger contractures (camptodactyly) and abnormal hand creases (hypoplastic dermal ridges). PreventionGenetics

9. Poor muscle tone (hypotonia) at birth if the baby survives delivery. PubMed

10. Feeding and swallowing problems due to jaw and muscle weakness. (Consistent with NMJ/myopathy causes.) PubMed

11. Possible CNS anomalies on imaging or exam, depending on the underlying cause. autopsyandcasereports.org

12. Abnormal amniotic fluid levels (polyhydramnios from poor swallowing or oligohydramnios in constraint states). ScienceDirect

13. Heart defects in some cases (not universal; varies by genetic cause). autopsyandcasereports.org

14. Very poor immediate adaptation after birth (low Apgar scores) in severe cases. PubMed

15. High early mortality when lungs are very small, though a minority with milder forms and identifiable NMJ/myopathy defects can live longer with supportive care. PubMed+1

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How doctors diagnose

A) Physical examination

1. Newborn general exam
   Checks body size (IUGR), head shape, facial features, limb posture, and breathing effort. The pattern of fixed joints + facial features + breathing trouble suggests FADS. PubMed

2. Focused joint exam
   Each joint is assessed for range and fixed position to document arthrogryposis in detail, which is a hallmark feature. orpha.net

3. Respiratory assessment
   Clinicians look for rapid breathing, retractions, low oxygen, and small chest size, all pointing to pulmonary hypoplasia. PubMed

4. Neurologic exam
   Muscle tone, reflexes, and response are checked to look for myopathy, neuropathy, or CNS involvement. PubMed

5. Skin and palmar crease inspection
   Thin or under-developed dermal ridges and abnormal creases support the diagnosis in the right context. PreventionGenetics

B) Manual/bedside functional tests

6. Passive range-of-motion testing
   Gentle movement of each joint estimates severity of contractures and helps plan splinting/therapy if needed. orpha.net

7. Bedside airway/jaw assessment
   Small jaw and limited mouth opening can make ventilation or feeding difficult; bedside assessment guides immediate support. PubMed

8. Primitive reflex checks
   Rooting, suck, and Moro reflexes are observed; weak or absent reflexes may suggest neuromuscular disease. PubMed

C) Laboratory and pathological tests

9. Chromosomal microarray / karyotype
   Rules out aneuploidies or pathogenic copy-number changes when the phenotype mimics trisomy 18. Radiopaedia

10. Targeted gene panel for FADS / congenital myopathy / congenital myasthenic syndromes
    Modern sequencing panels (including RAPSN, DOK7, MUSK, AChR subunits, ACTA1, TTN, NEB, KLHL40/41, TPM2 and others) search the many genes now linked to fetal akinesia. PreventionGenetics+1

11. Exome or genome sequencing
    If panels are negative, broader sequencing increases the chance of finding the cause, given >160 implicated genes overall. gimjournal.org

12. Maternal acetylcholine-receptor (AChR) antibody test
    If the mother has myasthenia gravis, antibodies can cross the placenta and paralyze the fetus; testing helps confirm this pathway. PubMed

13. Creatine kinase (CK) and muscle enzymes
    These may be normal or mildly raised; results can support a myopathic process in the right context. gimjournal.org

14. Fetal/placental or post-mortem pathology (when applicable)
    Lung weights and histology demonstrate pulmonary hypoplasia; muscle/nerve histology can reveal myopathy or NMJ changes. PubMed+1

D) Electrodiagnostic tests

15. Electromyography (EMG)
    In survivors, EMG can help separate myopathy vs. neuropathy vs. NMJ problems. PubMed

16. Nerve conduction studies (NCS)
    Check peripheral nerve function when neuropathy is suspected in the fetal akinesia spectrum. PubMed

17. Repetitive nerve stimulation / single-fiber EMG
    These specialized tests can demonstrate neuromuscular-junction transmission failure (e.g., congenital myasthenic syndromes) underlying the FADS picture. PubMed

E) Imaging tests

18. Detailed prenatal ultrasound
    Looks for decreased movement, fixed limb positions, facial profile changes, growth restriction, cord length clues, and signs of small lungs or fluid imbalance. PubMed+1

19. Fetal MRI
    When ultrasound is unclear, MRI refines assessment of brain, spine, chest, and joints and may better show lung size. autopsyandcasereports.org

20. Postnatal radiographs and chest imaging
    Skeletal films document arthrogryposis; chest X-ray shows small lungs and bell-shaped chest; echocardiography checks for heart defects. Radiopaedia+1

Non-pharmacological treatments (therapies and other supports)

Important reality check: There is no proven cure that reverses classic PSS. Care focuses on prenatal counseling, birth planning, comfort-focused newborn care, and, in the rare survivors, supportive rehabilitation. Below are practical, humane measures used case-by-case. (Where evidence exists, I cite it.)

1. Early, expert prenatal counseling. Discuss ultrasound findings, likely prognosis, and options (continuation of pregnancy, palliative planning). Helps families prepare and reduces uncertainty. Dove Medical Press

2. Serial high-resolution ultrasounds. Track fetal movement, growth, chest motion, and amniotic fluid; guides counseling and delivery planning. Dove Medical Press

3. Fetal MRI (selected cases). Clarifies brain development, muscles, and thoracic volume when ultrasound is limited. Supports diagnosis and planning. ScienceDirect

4. Genetic testing (prenatal or postnatal). Panels/exome to identify neuromuscular-junction or motor-neuron genes; informs recurrence risk. Nature+1

5. Maternal antibody evaluation when history suggests myasthenia. If positive, the plan may change (see drugs section for IVIG). Wiley Online Library

6. Delivery at a tertiary center. Access to neonatology, anesthesia, airway, and palliative care teams. Improves safety and decision-making. Orphan Anesthesia

7. Antenatal birth plan & goals-of-care. Aligns interventions (full resuscitation vs comfort care only) with family values before delivery. Dove Medical Press

8. Newborn comfort-focused (palliative) care protocols. Warmth, gentle handling, family presence, and symptom relief; avoids burdensome procedures when lungs are nonviable. Dove Medical Press

9. Airway assessment & positioning. Micrognathia and contractures can complicate breathing; careful positioning and gentle suctioning reduce distress. Orphan Anesthesia

10. Feeding support. Specialist input for safe feeding; upright positioning to reduce aspiration; in survivors, consider NG/G-tube if needed (surgery section). Dove Medical Press

11. Physiotherapy (gentle range-of-motion). In rare survivors, slow, pain-free stretches and splints help prevent worsening contractures. Evidence is extrapolated from arthrogryposis care. Dove Medical Press

12. Orthotic splinting & serial casting (non-operative). For milder deformities or while awaiting orthopedic review. Dove Medical Press

13. Respiratory hygiene & chest physiotherapy. Gentle techniques to help clear secretions in those who can breathe independently. Dove Medical Press

14. Skin care & pressure-injury prevention. Contractures increase pressure points; frequent turning and soft supports protect the skin. Dove Medical Press

15. Lactation and memory-making support. For families choosing comfort care, support bonding, photography, and cultural/spiritual needs. Dove Medical Press

16. Bereavement care. Structured follow-up, counseling, and community resources after perinatal loss. Dove Medical Press

17. Genetic counseling for parents (and sometimes relatives). Explains inheritance and options for future pregnancies (carrier testing, CVS/amniocentesis, IVF with PGT). Dove Medical Press

18. Future pregnancy surveillance plan. Early targeted ultrasound, possibly fetal movement monitoring, and timely genetic testing if a familial variant is known. Dove Medical Press

19. Multidisciplinary care coordination. Neonatology, anesthesia, orthopedics, neurology, genetics, palliative care—coordinated care reduces duplicate procedures and stress. Dove Medical Press

20. Clear communication & written care pathways. Improves consistency across teams and honors family choices at every step. Dove Medical Press

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Drug treatments

Honest note: For classic PSS/FADS, there is no disease-modifying medicine proven to restore fetal movement or lung growth. Medicines, when used, are for associated problems or comfort. A small, special exception is the maternal-antibody form (FARAD/FARIS), where treating the mother during pregnancy may help the fetus. I’ll separate (A) pregnancy-time treatments (maternal) and (B) newborn/supportive medicines. Evidence strength varies and decisions are individualized.

(A) Medicines given to the mother during pregnancy (selected cases)

1. IVIG (intravenous immunoglobulin) for suspected FARAD/FARIS (maternal AChR antibodies). Purpose: lower harmful antibodies; Mechanism: immune modulation; Timing: typically repeated courses in mid–late pregnancy; Side effects: headache, thrombosis risk, aseptic meningitis (rare). Evidence: small series/case reports suggest reduced severity. BioMed Central

2. Therapeutic plasma exchange for FARAD/FARIS. Purpose: physically remove antibodies; Mechanism: apheresis; Timing: scheduled sessions; Risks: line complications, hypotension. Used in selected centers. BioMed Central

3. Standard antenatal corticosteroids (betamethasone) if preterm birth is expected. Purpose: mature lungs; does not correct PSS but may aid preterm outcomes; Risks: transient maternal hyperglycemia. (General obstetric practice.) Dove Medical Press

Not recommended as “treatments” for PSS: routine maternal steroids, tocolytics, or experimental drugs to try to “increase fetal movement”—no evidence of benefit in classic PSS. Dove Medical Press

(B) Medicines for the newborn (supportive/comfort-focused)

Each of the following is used only if consistent with the family’s goals and the baby’s condition:

4. Oxygen therapy (if some spontaneous breathing). Purpose: relieve hypoxemia; Risks: oxygen toxicity if high and prolonged. Dove Medical Press

5. Gentle inhaled nitric oxide (iNO) for persistent pulmonary hypertension (PPHN) if present and the infant is otherwise a candidate for support. Mechanism: pulmonary vasodilation; Risks: methemoglobinemia (rare). Dove Medical Press

6. Surfactant (if intubated for respiratory distress syndrome due to prematurity). Note: does not fix lung hypoplasia. Dove Medical Press

7. Caffeine citrate for apnea of prematurity (if indicated). Mechanism: stimulates respiratory drive; Side effects: tachycardia, irritability. Dove Medical Press

8. Analgesics for comfort (e.g., acetaminophen, or opioids in end-of-life comfort care). Purpose: relieve pain or breathlessness; Risks: standard medication risks; doses adjusted by neonatology. Dove Medical Press

9. Sedatives (e.g., low-dose midazolam or morphine infusions) used only for symptom relief in palliative settings. Goal: ease suffering; Risks: respiratory depression (which may be acceptable in comfort care). Dove Medical Press

10. Antibiotics for aspiration pneumonia or other infections if the plan is active treatment. Dove Medical Press

11. Proton-pump inhibitors / H2 blockers for severe reflux with aspiration risk, if feeding is pursued. Note: weigh risks (e.g., infections). Dove Medical Press

12. Anticholinergics (e.g., glycopyrrolate) to reduce problematic secretions in selected palliative situations. Dove Medical Press

13. Bronchodilators (trial) only if there is bronchospasm; usually limited role in lung hypoplasia. Dove Medical Press

14. Diuretics in suspected pulmonary edema/heart involvement (case-by-case). Dove Medical Press

15. Vitamin K at birth (routine) to prevent bleeding. Dove Medical Press

16. Routine newborn immunizations (if surviving to schedule and family chooses ongoing care). Dove Medical Press

17. Anticonvulsants if seizures occur (rare but possible in some overlapping syndromes). Dove Medical Press

18. Mucolytics / saline nebulization for secretion management (symptom-driven). Dove Medical Press

19. Vitamin D per neonatal norms if long-term care is planned (bone health in immobilized infants). Dove Medical Press

20. Emergency medications (e.g., epinephrine) follow standard neonatal protocols if resuscitation is attempted per the agreed plan. Dove Medical Press

Key takeaway: none of the medicines above cure PSS. They are for support or comfort, chosen to match the family’s wishes and the baby’s specific situation. Dove Medical Press

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Dietary molecular supplements

Straight talk: Supplements do not treat classic PSS. In pregnancy, standard prenatal nutrition matters for overall health but does not reverse fetal akinesia or lung hypoplasia. If the rare survivor is being fed, nutrition supports general growth and skin/muscle health. Always follow the neonatology/dietetics plan.

1. Folic acid (pregnancy) – standard 400–800 µg/day pre-conception and first trimester for neural tube prevention; not PSS-specific.

2. Prenatal multivitamin (per local guidelines) – overall micronutrient adequacy.

3. Iron – treat maternal anemia; improves maternal health and fetal oxygen delivery.

4. Iodine – thyroid hormone production; maternal deficiency harms neurodevelopment.

5. Vitamin D – bone health (mother/infant); dosing per labs/guidelines.

6. Calcium – maternal bone health; standard prenatal intake.

7. DHA (omega-3) – general fetal brain/retina development; not disease-specific.

8. Protein-adequate diet – supports pregnancy demands; individualized if hyperemesis.

9. Human milk (if a survivor can safely receive via tube) – optimal nutrition and immune factors.

10. Thickened feeds (if clinically advised) – reduce aspiration in reflux; used under specialist guidance.

(These are supportive measures; they do not change the underlying syndrome.) Dove Medical Press

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Immunity-booster / regenerative / stem-cell” drugs

Important safety note: There is no credible evidence that “immunity boosters,” stem-cell infusions, or regenerative medicines treat or reverse Shokeir syndrome or fetal akinesia. These approaches are experimental and not recommended outside ethics-approved clinical trials. If you encounter such offers, seek a second opinion from a university-affiliated maternal–fetal medicine or medical genetics center. Current research interest is focused on identifying genes and preventing antibody-mediated forms by treating the mother (IVIG/plasma exchange) rather than on fetal stem-cell therapy. Nature+1

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Surgeries

Surgery is uncommon because most affected infants do not survive. In rare longer-term survivors or milder phenotypes:

1. Gastrostomy tube (G-tube). For safe nutrition if swallowing is unsafe due to bulbar weakness/aspiration. Dove Medical Press

2. Tracheostomy (very select cases). For chronic airway protection/ventilation if a child is stable enough and the family chooses invasive support. Dove Medical Press

3. Serial casting and tendon release for severe clubfoot or joint contractures to improve positioning and skin care. (Often combined with physiotherapy/orthotics.) Dove Medical Press

4. Cleft palate repair if present and the child is otherwise stable; helps feeding and speech later. Dove Medical Press

5. Eye procedures (rare; more relevant to Type II/COFS) for cataracts/other ocular issues, case-by-case. PMC

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Preventions

Because many cases are genetic, prevention focuses on future pregnancy planning:

1. Genetic counseling after any PSS/FADS diagnosis. Understand inheritance and recurrence risk. Dove Medical Press

2. Carrier testing for both parents if a pathogenic variant is found. Dove Medical Press

3. Early targeted ultrasound in future pregnancies (first/early second trimester) to monitor movement and anatomy. Dove Medical Press

4. Prenatal diagnostic testing (CVS/amniocentesis) if a familial variant is known. Dove Medical Press

5. IVF with preimplantation genetic testing (PGT-M) when a known variant is identified and parents desire to lower risk. Dove Medical Press

6. Manage maternal myasthenia gravis before and during pregnancy; consider IVIG or plasma exchange in FARAD/FARIS risk pregnancies per specialists. BioMed Central

7. Avoid teratogens (alcohol, certain drugs) and follow routine prenatal care. (Not PSS-specific but always important.) Dove Medical Press

8. Optimize maternal health (nutrition, diabetes/thyroid control). General risk reduction. Dove Medical Press

9. Consanguinity counseling where relevant, because autosomal recessive risks are higher. PMC

10. Document and share prior records with future obstetric teams early to trigger timely surveillance. Dove Medical Press

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When to see doctors

In pregnancy:

• Ultrasound shows reduced or absent fetal movement, joint contractures, polyhydramnios, small chest/lungs, or unusual limb/facial positions → urgent referral to maternal–fetal medicine and clinical genetics. Radiopaedia

After birth (if baby survives):

• Breathing difficulty, weak cry, poor feeding, choking or frequent coughing with feeds, repeated chest infections, obvious pain with handling, or skin breakdown over joints → immediate neonatal/paediatric assessment. Dove Medical Press

For parents with history of PSS:

• Before the next pregnancy to plan genetic testing and early surveillance. Dove Medical Press

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What to eat and what to avoid

For pregnancy (general, not PSS-specific):

• Eat: a balanced diet with adequate protein, fruits/vegetables, whole grains; prenatal vitamins with folic acid and iodine; iron if prescribed.

• Avoid: alcohol, smoking, illicit drugs; limit high-mercury fish; avoid unpasteurized dairy and undercooked meats/fish.

• Hydrate well and follow any extra advice given by your obstetric team.

For a surviving infant:

• Follow the neonatology/dietitian plan. If swallowing is unsafe, use tube feeding with the prescribed formula or expressed breast milk. Keep the baby upright during and after feeds to reduce aspiration. Do not try thickeners or alternative formulas without medical advice. Dove Medical Press

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Frequently asked questions (FAQ)

1) Is Shokeir syndrome curable?
No. Classic PSS has no cure today. Care is about accurate diagnosis, honest planning, and comfort. A small subgroup due to maternal antibodies may improve with maternal treatments during pregnancy. BioMed Central

2) Did the parents do something to cause it?
Almost always no. Many cases are genetic or immune-mediated and occur despite perfect prenatal care. PMC

3) How is it diagnosed before birth?
By ultrasound showing very little movement, fixed limbs, and sometimes a small chest/lungs; sometimes fetal MRI and genetic testing add information. Radiopaedia

4) Is it the same as arthrogryposis?
PSS includes arthrogryposis (stiff joints) but also has lung underdevelopment and high mortality; arthrogryposis alone has many causes and can be compatible with long survival. Radiopaedia

5) How is Type I different from Type II?
Type I is the classic fetal akinesia picture and usually lethal early; Type II (COFS) has brain and eye degeneration and some children live longer with severe disability. PMC

6) What genes are involved?
Many. Some affect the neuromuscular junction (e.g., CHRNG, DOK7, RAPSN, MUSK), others affect different steps in movement pathways; GLE1 variants cause an overlapping LCCS. Nature+2National Organization for Rare Disorders+2

7) Can maternal myasthenia gravis cause a similar picture?
Yes—maternal AChR antibodies can severely reduce fetal movement (FARAD/FARIS). Treating the mother with IVIG or plasma exchange in pregnancy may lessen severity in some reports. PMC+1

8) Can we try intensive ventilation to save the baby?
Teams can attempt support if that’s the family’s wish, but severely under-developed lungs often cannot sustain life despite maximal support. Clear goals-of-care discussions before birth are essential. Dove Medical Press

9) If a baby survives, what challenges are likely?
Feeding problems, aspiration risk, repeated chest infections, severe joint contractures, possible eye/brain issues (depending on type). Multidisciplinary care is needed. Dove Medical Press

10) Are there clinical trials?
Trials are uncommon due to rarity and heterogeneity. Research focuses on genetics and maternal antibody–mediated disease. Ask tertiary centers about registries. Nature

11) What is the recurrence risk?
If autosomal recessive, 25% per pregnancy when a causal variant is found in both parents. Heterogeneity means risk estimates can vary—see a genetic counselor. PMC

12) Can PSS be confused with trisomy 18?
Yes, the appearances can overlap. Chromosome testing (karyotype/CMA) helps differentiate. Radiopaedia

13) Is multiple pterygium syndrome the same as PSS?
They overlap (both are “fetal akinesia” phenotypes). Some authors classify lethal multiple pterygium as related but distinct. Terminology varies. PMC+1

14) What support exists for families after loss?
Perinatal palliative care programs offer bereavement counseling, community resources, and follow-up planning for future pregnancies. Dove Medical Press

15) What should we do next after a suspected diagnosis?
Ask for referral to maternal–fetal medicine and clinical genetics, plan serial ultrasounds, discuss goals-of-care and delivery at a tertiary center, and consider genetic testing for you and (if possible) your baby. Dove Medical Press

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: September 13, 2025.

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