A Case of Ellis-van Creveld Syndrome

Dear Editor,

Ellis-van Creveld syndrome (EVCS) is an autosomal recessive condition due to mutations in the EVC or EVC2 genes, both present on chromosome 4p16. It is a rare form of short-limbed disproportionate dwarfism distinguished by postaxial polydactyly, various skeletal, oral, mucosal, and dental anomalies, nail dysplasia, and congenital cardiac defects. The 150 distinct types of ectodermal dysplasias have been categorized based on the involvement of hair, teeth, nails, and sweat glands, in the modified Freire-Maia and Pinheiro classification. EVCS is classified among subgroups 1-2-3 (hair, teeth, nails) of this classification. Its prevalence is seven cases per 1,000,000 live births.[1] About 50% of EVCS patients die during infancy.[2]

A 12-year-old female presented to us with complaints of small and disfigured nails. Second in birth order, she was born of a third-degree consanguineous marriage, following an uneventful pregnancy. Her elder male sibling who died within 48 hours of birth had bilateral polydactyly on the hands, multiple cardiac defects, a small thorax, and renal agenesis. On examination, she had a short stature (113 cm) with an increased upper segment-lower segment ratio (1.3:1) as is seen in skeletal dysplasias. She also had acromesomelic dwarfism which is characterized by shorter forearms and legs. The ratio of the lengths of proximal to middle segments is normally 1.21:1, while in her case, it was 1.16:1 in the upper limbs and 1.68:1 in the lower limbs. The patient also had a narrow thorax and lumbar lordosis.

There was bilateral postaxial polydactyly with six hypoplastic fingers in bilateral hands [Figure 1]. Her toes were crowded, with intertrigo in multiple interdigital webspaces on both feet [Figure 2]. All nails were hypoplastic and dystrophic [Figures 1 and 2].

Figure 1.

Postaxial polydactyly of bilateral hands

Figure 2.

Genu valgum and crowding of toes of both feet. Scarring seen over medial aspects of the knees post the eight-plate hemiepiphysiodesis done for genu valgum

The patient had persisting deciduous teeth which had erupted late (at 6 years of age). She had peg-shaped lower incisors, absent upper lateral incisors, and widely-spaced teeth with dental malocclusion [Figure 3a]. The upper and lower lips were fused to the gingival margins by multiple labiogingival frenulae with incomplete obliteration of the anterior mucobuccal folds [Figure 3b].

Figure 3.

(a) Abnormal dentition with peg-shaped lower incisors, absent upper lateral incisors, and widely spaced teeth. (b) Partially obliterated lower mucobuccal fold with multiple labiogingival frenulae

She had undergone eight-plate hemiepiphysiodesis for genu valgum approximately 3 years before presenting to our clinic [Figure 2].

At 5 years of age, she was diagnosed with and operated for a large (1.2 cm) ostium primum atrial septal defect (ASD) with a cleft anterior mitral leaflet and mild mitral regurgitation.

Complete blood counts and hepatic and renal function tests were normal. Ultrasonography showed a single right-sided 41 mm × 35 mm hemorrhagic ovarian cyst. Scalp, eyebrow, and body hair were normal.

EVCS also known as chondroectodermal dysplasia shows no gender predilection.[2] About 30%[3] cases are borne out of consanguineous marriages, our case being one of them. Siblings have a risk of recurrence of 25% per offspring.[4] Parents of this patient have been adequately counseled about possible recurrence in future pregnancies. The patient’s elder male sibling affected with EVCS, also had renal agensis. Only 20% of EVCS cases exhibit genitourinary abnormalities.[5] Natal teeth may be present in an affected neonate.[3] Instead, our patient had persisting deciduous dentition which erupted late, at 6 years of age. Congenital heart defects are observed in approximately 50% of all cases, ASD being the most prevalent, as was seen in our patient. The chondrodystrophy frequently associated with EVCS was obvious here, with multiple prominent limb defects. Lumbar lordosis and genu valgum, also commonly seen in these patients, were both present in our case.

The presence of distinctive clinical features, along with concurrent congenital heart defects strongly suggest a diagnosis of EVCS. Genetic analysis could not be conducted due to financial limitations.

The closest differentials for EVCS are Weyers acrofacial dysostosis and Jeune syndrome. These share multiple overlapping features, including postaxial polydactyly, nail and teeth dysplasia, and short limbs [Table 1].

Table 1.

A concise comparative assessment between Ellis-van Creveld syndrome, Weyers acrofacial dysostosis, and Jeune syndrome

Features	Ellis-van Creveld syndrome	Weyers acrofacial dysostosis	Jeune syndrome
Disproportionate dwarfism	+	Mild	+
Narrow thorax	+	−	+
Pelvic skeletal anomalies	−	−	+
Abnormal mandible	−	+	−
Cardiac defects	+	−	−
Respiratory manifestations	−	−	+
Renal involvement	Rare	−	+
Retinal defects	−	−	+

When prenatal sonography reveals endocardial cushion defects alongside shortened long bones, clinicians should be vigilant to the potential presence of EVCS, prompting a thorough examination for hexadactyly of the hands. This syndrome is very rare and still incurable, but patients without severe cardiac and renal anomalies do survive into adulthood, though with significant morbidity. Identifying the clinical complex and having a multidisciplinary approach toward management can be of much help to these patients.

With this case report, we aim to enhance the understanding of EVCS, enabling medical professionals to better diagnose patients accurately and to manage them more efficiently.

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The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Conflicts of interest

There are no conflicts of interest.

Funding Statement

Nil.