Prenatal diagnosis of apert syndrome at 23 weeks: a case report with isolated syndactyly and sacrococcygeal appendage preceding cranial malformation
Case Report

Prenatal diagnosis of apert syndrome at 23 weeks: a case report with isolated syndactyly and sacrococcygeal appendage preceding cranial malformation

Shumiao Ge1, Qiurong Lai1, Dejian Yuan1, Eric McGrath2

1Department of Ultrasound, Liuzhou Hospital of Guangzhou Women and Children’s Medical Center, Liuzhou, China; 2Wayne State University School of Medicine, Detroit, MI, USA

Contributions: (I) Conception and design: S Ge, Q Lai; (II) Administrative support: Q Lai; (III) Provision of study materials or patients: D Yuan; (IV) Collection and assembly of data: S Ge; (V) Data analysis and interpretation: S Ge; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors.

Correspondence to: Shumiao Ge, MM. Department of Ultrasound, Liuzhou Hospital of Guangzhou Women and Children’s Medical Center, No. 50 Boyuan Avenue, Yufeng District, Liuzhou 545005, China. Email: 403587527@qq.com.

Background: Apert syndrome is a rare congenital malformation caused by a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Characteristic imaging findings include bilateral premature closure of the coronal suture, midfacial hypoplasia, and symmetrical syndactyly of the fingers and toes. These features may be accompanied by lateral ventricle dilation, absence of the corpus callosum, cervical vertebral fusion, and other anomalies. However, in the second trimester, syndactyly and extracranial anomalies may be the only detectable signs, which complicate early diagnosis. The purpose of this study is to improve the early diagnosis rate of Apert syndrome.

Case Description: We report an atypical case of Apert syndrome carrying the FGFR2 S252W mutation, which typically associated with severe cranial deformities and cleft palate, but prenatal ultrasound at 23 weeks revealed symmetrical syndactyly of both hands and feet and a sacrococcygeal soft tissue mass resembling a “tail” without cranial abnormalities. Although prior studies have linked this mutation to advanced paternal age, the father in this case was 25 years old, which does not align with this association.

Conclusions: This case demonstrated that Apert syndrome may present prenatally features other than cranial abnormalities. A practical screening strategy should therefore combine detailed second-trimester ultrasound evaluation of extremities and cardiac structures with prenatal genetic testing, even in the absence of cranial abnormalities.

Keywords: Apert syndrome; prenatal ultrasound diagnosis; syndactyly; fibroblast growth factor receptors (FGFR2); case report

Received: 06 November 2025; Accepted: 20 January 2026; Published online: 26 February 2026.

doi: 10.21037/acr-2025-316

Highlight box

Key findings

• Not all fetuses with Apert syndrome exhibit typical ultrasound features, prenatal genetic testing is essential for accurate evaluation of the fetal condition.

What is known and what is new?

• The first abnormality typically detected by prenatal ultrasound in Apert syndrome is a skull defect. The S252W mutation is frequently linked to cleft palate and prominent cranial abnormalities. Advanced paternal age is considered a significant risk factor for Apert syndrome.

• This fetus did not display cranial abnormalities on prenatal ultrasound but exhibited only symmetrical syndactyly of the hands and feet. This fetus revealed an S252W mutation, there were no craniofacial abnormalities. The father was not of advanced age, challenging existing assumptions regarding this risk factor.

What is the implication, and what should change now?

• Not all of the fetuses with Apert syndrome exhibit the typical ultrasound features. Any possible abnormalities should not be missed, and further prenatal diagnosis should be performed when ultrasound suggests suspicious abnormalities.

Introduction

Apert syndrome, first described by French physician Eugène Apert in 1906, is an autosomal dominant genetic disorder (1). The incidence of this disorder is approximately one in 50,000 to 60,000 births (2). Although the precise underlying cause remains unknown, a recent report suggests that nearly 50% of cases may result from genetic mutations originating from the father, potentially associated with advanced paternal age (3). The clinical features of the disorder are characterized by premature closure of the bilateral coronal sutures, midfacial hypoplasia, and symmetrical syndactyly of the hands and feet. It may also be accompanied by additional abnormalities, such as lateral ventricular dilation, absence of the corpus callosum, and cervical vertebral fusion (4). Historically, the first abnormal finding detected by prenatal ultrasound was a skull anomaly (5). From a prenatal standpoint, the traditional sonographic hallmark of craniosynostosis is abnormal skull shape and sutural fusion. However, routine two-dimensional (2D) ultrasound has limited early sensitivity, particularly when cranial deformity has not yet emerged, while three-dimensional (3D) ultrasound serves as an adjunct that improves visualization of sutures and cranial contours (6). The onset of cranial deformity is variable and often delayed syndromic cases present generally a higher rate of developmental delay, therefore, the median gestational age at diagnosis of craniosynostosis is 25 weeks (6), with many prenatal diagnoses confirmed near 29 weeks (7).

This report presents an atypical case of a fetus with Apert syndrome, confirmed by genetic testing, in which prenatal ultrasound revealed no cranial abnormalities and only symmetrical syndactyly of the hands and feet. This case highlights a diagnostic window in the second trimester when symmetric syndactyly and cardiac defects may be the only detectable signs and the head appears normal, cautioning against false reassurance from a normal cranial scan. We present this case in accordance with the CARE reporting checklist (available at https://acr.amegroups.com/article/view/10.21037/acr-2025-316/rc).

Case presentation

All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki and its subsequent amendments. Written informed consent was obtained from the patient’s parents for the publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

The father of the fetus is 25 years old and in good health. The pregnant woman is also 25 years old, G1P0, at 23 weeks of gestation, and in good health. She experienced a fever in the early stages of pregnancy, with a maximum body temperature of 38.5 ℃, and she denies any history of medication use. In the early stages of pregnancy, she was hospitalized to preserve the pregnancy due to a threatened miscarriage. Prenatal ultrasound at 12+2/7 weeks of gestation suggested increased nuchal translucency and an aberrant right subclavian artery, indicating a high risk of chromosomal abnormalities. Prenatal diagnosis via amniotic fluid analysis revealed no abnormalities in the fetal chromosomes or copy number variations. At 23 weeks of pregnancy, prenatal ultrasound showed that the fetal head shape was normal. The cavum septi pellucidi was present (Figure 1A). The fetal eyes and face appeared normal (Figure 1B). A skin-covered, non-vascular soft-tissue appendage arising from the sacrococcygeal region was observed, consistent with a sacrococcygeal eversion or caudal appendage (Figure 1C). Cardiac abnormalities included a right-sided heart, a ventricular septal defect, and an aberrant right subclavian artery (Figure 1D). Limb abnormalities included syndactyly of both hands with underdeveloped phalanges and syndactyly of both feet with underdeveloped phalanges (Figure 1E,1F).

Figure 1 Prenatal ultrasound images. (A) CSP; (B) the fetal eyes and face are normal; (C) the skin and soft tissue on the surface of the fetal spine coccyx are raised; (D) right-sided heart, ventricular septal defect, ARSA; (E) syndactyly of both hands; (F) syndactyly of both feet. ARSA, aberrant right subclavian artery; CSP, cavum septi pellucidi.

A counseling session was conducted to discuss the high probability of Apert syndrome. Comprehensive, non-directive counseling was provided in accordance with ethical guidelines, and after receiving clear and detailed information, the parents elected to terminate the pregnancy. Post-termination, the specimen showed a normal craniofacial appearance (Figure 2A), a bulging sacrococcygeal region (Figure 2B), symmetric syndactyly of the hands (Figure 2C), and symmetric syndactyly of the feet (Figure 2D). X-ray examination of the specimen revealed that the skull shape appeared normal (Figure 3A), and symmetric syndactyly of the hands (Figure 3B) and feet (Figure 3C) was observed. Head ultrasound examination of the specimen revealed that the morphology of the coronal sutures was normal, with no signs of premature closure observed (Figure 4), which was consistent with the prenatal ultrasound findings.

Figure 2 Appearance of the specimen after elective termination of the pregnancy. (A) Normal craniofacial appearance; (B) bulging sacrococcygeal region; (C) symmetric syndactyly of the hands; (D) symmetric syndactyly of the feet.
Figure 3 X-ray examination of the induced labor specimen. (A) Normal skull shape; (B) symmetric syndactyly of the hands; (C) symmetric syndactyly of the feet.
Figure 4 Head ultrasound examination of the specimen after elective termination showing normal coronal suture morphology and no evidence of premature closure.

After obtaining informed consent from the parents, amniotic fluid and venous blood samples from both the mother and father were collected for whole-exome high-throughput sequencing. The data from the couple were analyzed using the Verita Trekker mutation site detection system and the Enliven mutation microstore annotation interpretation system, both independently developed by Berry Gene. As a result, a heterozygous c.755C>G (p.S252W) mutation in the fibroblast growth factor receptor 2 (FGFR2) gene was identified in the fetus (Figure 5). No mutations were detected at this site in either the mother or the father (Figure 6), indicating that the mutation in this case was spontaneous rather than inherited. Combined with the clinical phenotype, a diagnosis of Apert syndrome was established.

Figure 5 A mutation in exon 7 was detected in the fetus: c.755C>G (p.S252W).
Figure 6 No mutation was detected in exon 7 of either the mother or the father.

The timeline of interventions and outcomes is shown in Figure 7.

Figure 7 The timeline of interventions and outcomes.

Discussion

Apert syndrome, also known as acrocephalosyndactyly, is a widely recognized congenital condition characterized by distinct craniofacial deformities and bilateral syndactyly of the hands and feet (8). A literature search was conducted using the keywords “Apert syndrome” (MeSH) AND (“FGFR2” OR “genetic”) on PubMed, EMBASE, and Web of Science. A total of 484 articles were retrieved from a self-built database up to March 2025. Among these, 18 cases with clear gene sequencing data and relatively complete clinical information were identified. Including the present case, a total of 19 cases were analyzed. Of these, 8 were male (42.1%) and 11 were female (57.9%). The primary clinical manifestations included craniosynostosis, midfacial hypoplasia, and syndactyly of the hands and feet. Among the 19 cases, 16 involved the S252W mutation and 3 involved the P253R mutation. All 19 patients exhibited varying degrees of syndactyly of the hands and feet. Notably, 3 of these patients presented only with syndactyly and no craniofacial abnormalities; all 3 had the S252W mutation. The paternal age was reported in 7 cases, ranging from 19 to 35 years, with an average age of 29 years (see Table 1 for details) (9-21).

Table 1

Gene mutations and clinical phenotype data of 19 children with Apert syndrome

Case (ref.) Report year Gender Paternal age (years) Gene mutation site Anomalies
1 (7) 2021 Female 34 S252W Craniosynostosis; skull was narrow and pointed; forehead was uplifted and raised; nasal root was slightly concave; eye distance was widened; syndactyly of hands and feet
2 (8) 2018 Male 30 P253R Craniosynostosis; midfacial retrusion; steep wide forehead; larger head circumference; marked depression of the nasal bridge; short and wide nose and proptosis; syndactyly of hands and feet
3 (9) 2019 Female – S252W Syndactyly of hands and feet
4 (2) 2019 Female – S252W Midfacial hypoplasia; syndactyly of hands and feet
5 (10) 2003 Female – S252W Syndactyly of hands and feet
6 (11) 2015 Male – S252W Turricephaly; brachycephaly; prominent forehead; midfacial hypoplasia; hypertelorism; depressed nasal bridge; malar hypoplasia and high palate; syndactyly of hands and feet
7 (11) 2015 Male – S252W Midfacial hypoplasia; low-set ears; depressed nasal bridge; turricephaly; syndactyly of hands and feet
8 (12) 2013 Male 35 S252W Midfacial hypoplasia; severe proptosis; downslanting palpebral fissures; low-set posteriorly rotated ears and high arched palate; atrial septal defect; syndactyly of hands and feet
9 (12) 2013 Male 19 P253R Midfacial hypoplasia; large ears; depressed nasal bridge; anteverted nostrils; thin upper lip and high palate; syndactyly of hands
10 (13) 2011 Male 35 S252W Dysmorphic facial appearance; syndactyly of hands and feet
11 (14) 2008 Female 25 S252W Severe brachycephaly; midfacial hypoplasia; flat forehead; proptosis; hypertelorism; short nose with a bulbous tip; syndactylies of hands and feet
12 (15) 2008 Female – P253R Craniosynostosis; forehead protrusion; midfacial hypoplasia
13 (16) 2006 Female – S252W Craniosynostosis; cleft palate; brachycephaly; bilateral proptosis; syndactyly of hands and feet
14 (16) 2019 Female – S252W Bilateral proptosis; midface hypoplasia; brachycephaly; syndactyly of hands and feet
15 (17) 2019 Female – S252W Midfacial hypoplasia; cardiac anomalies; syndactyly of hands and feet
16 (17) 2019 Female – S252W Midfacial hypoplasia; cardiac anomalies; syndactyly of hands and feet
17 (18) 2017 Male – S252W Prominent cisterna magna; fused coronal sutures; hypoplastic appearance of frontal and sphenoid bones and sagittal and lambdoid sutures appeared open; global developmental delay; syndactyly of feet
18 (19) 1999 Male – S252W Syndactyly of hands; reduced foot length bilaterally with abnormal toes; face had an abnormal profile with turribrachycephaly and a short nose
19 (this case) 2025 Female 25 S252W Syndactyly of hands and feet; cardiac abnormalities accompanied by poor “tail” degeneration

“–” indicates not described.

Apert syndrome is an autosomal dominant disorder, and approximately 98% of cases are caused by mutations in the FGFR2 gene (22). The S252W and P253R mutations in FGFR2 are the primary causes, with the S252W variant being more prevalent (23). Fibroblast growth factors (FGFs) influence cellular proliferation, differentiation, and apoptosis via multiple signaling pathways and exhibit various biological functions, such as promoting fibroblast mitosis, angiogenesis, and embryonic tissue development (24).

Fibroblast growth factor receptors (FGFRs) are a family of tyrosine kinase receptors that share similar protein structures and operate both interdependently and independently. FGFR2 binds to several FGF ligands and plays a critical role in FGF signaling. This interaction is essential in the formation of cranial sutures and the development of limb buds. The FGFR2 gene is located at chromosome 10q26. Mutations in the FGFR2 gene enhance ligand-binding affinity, leading to the upregulation of the FGFs/FGFR2 signaling pathway, which causes osteoblast dysfunction and symptoms such as craniosynostosis. Additionally, such mutations may cause ectopic expression of activated keratinocyte growth factor, resulting in syndactyly. Sacrococcygeal eversion, an uncommon but distinctive cutaneous marker, has been identified in FGFR2-associated craniosynostosis syndromes (Apert, Pfeiffer). It has been reported coexist with spinal dysraphism, necessitating targeted evaluation (25). Prenatal identification is diagnostically pivotal, directing differential diagnosis toward syndromic craniosynostosis rather than isolated limb malformations. Apert syndrome is defined by multisuture craniosynostosis, midface hypoplasia, and complex osseocutaneous syndactyly of the hands and feet, producing the characteristic “mitten hands” and “sock feet” (26). Pfeiffer syndrome also involves craniosynostosis and midface hypoplasia but is distinguished by broad, medially deviated thumbs and great toes with partial soft-tissue syndactyly, lacking the extensive limb fusion seen in Apert. Crouzon syndrome presents with craniosynostosis, midface hypoplasia, and exorbitism without limb anomalies, whereas Carpenter syndrome, inherited in an autosomal recessive pattern, combines craniosynostosis with polysyndactyly and systemic malformations, differing in both limb phenotype and genetic basis (27). In this case, the presence of symmetric, complex syndactyly alongside extracranial markers and FGFR2 S252W mutation confirmed this case is Apert syndrome over Pfeiffer, Crouzon, or Carpenter.

Clinical manifestations differ according to mutation type. Slaney et al. (28) proposed in a 1996 study that the P253R mutation is associated with more severe limb deformities, while the S252W mutation is more frequently linked to cleft palate and pronounced cranial deformities. This view has been supported by multiple reports in subsequent years. Although chromosome analysis of the fetus in the present case revealed an S252W mutation, there were no craniofacial abnormalities or cleft palate typically associated with craniosynostosis. This might due to the termination at 23 weeks prevented the phenotype from developing as onset of cranial deformity is often delayed to 25 weeks (6,7).

Instead, the fetus exhibited severe symmetric syndactyly of the hands and feet, bony fusion, cardiac abnormalities, and poor regression of the caudal structures. Among the cases we examined, two additional patients with the S252W mutation also presented only with hand and foot syndactyly and lacked craniofacial anomalies. Therefore, the correlation between genetic phenotype and clinical manifestation warrants further investigation.

Another inconsistency with the literature involves paternal age. Earlier studies reported that advanced paternal age is a significant risk factor for Apert syndrome, with incidence increasing as paternal age rises (29). However, in the present case and several of the reviewed reports, the fathers were not of advanced age. Thus, whether the incidence of Apert syndrome is indeed correlated with paternal age remains a question for further study.

Due to current limitations in medical technology and the existing literature, the prenatal diagnosis of Apert syndrome remains challenging, and many cases continue to go undetected before birth (30). The diversity of genotypic expression contributes to this difficulty, as the same mutation may result in a wide range of phenotypes. Furthermore, not all of the fetuses with Apert syndrome exhibit the typical ultrasound features, such as premature closure of the coronal sutures, acrocephaly, facial abnormalities, or bilateral syndactyly. When clinicians encounter suspicious abnormalities, particularly syndactyly combined with other systemic anomalies, prenatal genetic testing is essential to assess the fetus’s condition more accurately. Additionally, early ultrasound screening may assist in identifying fetuses at risk for chromosomal abnormalities.

Postnatal management of Apert syndrome typically involves early cranial vault remodeling and optimize neuro-ophthalmic outcomes, staged extremity surgeries to enhance hand and foot function, and, when indicated, midface advancement for airway and oculoorbital protection. Common complications include airway obstruction, and conductive hearing loss. Neurocognitive outcomes vary from normal to impaired, influenced by intracranial pressure, associated cerebral anomalies, and access to specialized care. Standard care mandates multidisciplinary follow-up encompassing craniofacial surgery, neurosurgery, ophthalmology, otolaryngology, hand surgery, genetics, and developmental pediatrics (31). These considerations informed and supported the parents’ decision to terminate the pregnancy.

Conclusions

Not all fetuses with Apert syndrome exhibit typical ultrasound features, prenatal genetic testing is essential for accurate evaluation of the fetal condition.

Acknowledgments

None.

Footnote

Reporting Checklist: The authors have completed the CARE reporting checklist. Available at https://acr.amegroups.com/article/view/10.21037/acr-2025-316/rc

Peer Review File: Available at https://acr.amegroups.com/article/view/10.21037/acr-2025-316/prf

Funding: None.

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://acr.amegroups.com/article/view/10.21037/acr-2025-316/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki and its subsequent amendments. Written informed consent was obtained from the patient’s parents for the publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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doi: 10.21037/acr-2025-316
Cite this article as: Ge S, Lai Q, Yuan D, McGrath E. Prenatal diagnosis of apert syndrome at 23 weeks: a case report with isolated syndactyly and sacrococcygeal appendage preceding cranial malformation. AME Case Rep 2026;10:87.

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